A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587138



Internal ID6627445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108824350..108829378hg38UCSC Ensembl
Innerchr1:108824350..108829378hg38UCSC Ensembl
Outerchr1:108823971..108829721hg38UCSC Ensembl
chr1:109366972..109372000hg19UCSC Ensembl
Innerchr1:109366972..109372000hg19UCSC Ensembl
Outerchr1:109366593..109372343hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg385029
hg195029
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10053352, essv10053310, essv10053353, essv10053359, essv10053259, essv10053237, essv10053224, essv10053355, essv10053316, essv10053248, essv10053164, essv10053166, essv10053324, essv10053220, essv10053173, essv10053291, essv10053176, essv10053238, essv10053187, essv10053253, essv10053181, essv10053272, essv10053197, essv10053323, essv10053273, essv10053305, essv10053281, essv10053171, essv10053184, essv10053206, essv10053276, essv10053354, essv10053329, essv10053279, essv10053198, essv10053178, essv10053351, essv10053270, essv10053249, essv10053357, essv10053267, essv10053226, essv10053195, essv10053222, essv10053192, essv10053344, essv10053339, essv10053208, essv10053215, essv10053337, essv10053227, essv10053213, essv10053282, essv10053312, essv10053216, essv10053289, essv10053243, essv10053293, essv10053271, essv10053254, essv10053177, essv10053258, essv10053315, essv10053308, essv10053229, essv10053207, essv10053175, essv10053318, essv10053278, essv10053244, essv10053346, essv10053183, essv10053350, essv10053317, essv10053240, essv10053298, essv10053304, essv10053307, essv10053333, essv10053328, essv10053203, essv10053261, essv10053217, essv10053165, essv10053236, essv10053209, essv10053174, essv10053219, essv10053311, essv10053242, essv10053228, essv10053163, essv10053288, essv10053188, essv10053230, essv10053172, essv10053349, essv10053287, essv10053168, essv10053314, essv10053334, essv10053332, essv10053170, essv10053262, essv10053319, essv10053191, essv10053331, essv10053167, essv10053341, essv10053302, essv10053193, essv10053265, essv10053309, essv10053269, essv10053190, essv10053294, essv10053285, essv10053296, essv10053250, essv10053214, essv10053161, essv10053313, essv10053232, essv10053325, essv10053274, essv10053255, essv10053179, essv10053306, essv10053292, essv10053326, essv10053264, essv10053335, essv10053290, essv10053327, essv10053275, essv10053218, essv10053241, essv10053247, essv10053348, essv10053260, essv10053320, essv10053221, essv10053252, essv10053212, essv10053299, essv10053336, essv10053322, essv10053343, essv10053295, essv10053284, essv10053358, essv10053330, essv10053301, essv10053347, essv10053268, essv10053234, essv10053202, essv10053182, essv10053340, essv10053239, essv10053245, essv10053246, essv10053180, essv10053201, essv10053189, essv10053263, essv10053286, essv10053345, essv10053210, essv10053321, essv10053280, essv10053194, essv10053338, essv10053277, essv10053257, essv10053169, essv10053162, essv10053303, essv10053283, essv10053256, essv10053231, essv10053204, essv10053186, essv10053185, essv10053225, essv10053356, essv10053200, essv10053297, essv10053266, essv10053235, essv10053196, essv10053233, essv10053223, essv10053300, essv10053205, essv10053342, essv10053251, essv10053199, essv10053211
SamplesNA20762, NA18998, HG02250, HG00231, HG02272, HG01462, HG03965, HG01624, HG02298, HG04222, HG03237, HG02026, HG00100, HG04194, HG02262, HG01280, HG02275, HG03668, NA12004, NA21115, HG02382, HG02271, NA18616, HG02154, HG00654, NA18962, HG02792, NA20814, HG03837, NA19068, NA18563, HG01571, HG04100, HG00127, HG02312, NA18944, NA18940, HG03770, HG01070, HG03796, HG03640, HG03722, NA18995, HG01853, HG02156, HG04206, NA18567, HG03913, HG02266, NA18618, HG01816, HG02299, HG01761, NA19054, NA21103, NA19079, NA20910, HG02278, HG02131, NA20539, HG03803, HG04214, HG03817, NA19651, NA18970, HG02252, HG00148, HG01628, HG02389, NA19731, HG01849, HG00534, NA19075, NA18748, NA18986, HG03995, HG02178, HG01950, NA19725, HG02104, HG01771, HG02623, NA20533, HG00464, HG01699, HG01124, NA18951, HG02265, HG00629, HG01841, NA19091, HG01435, HG03907, HG02513, HG00557, HG01104, NA19086, HG01271, NA18644, HG01515, HG02775, NA20862, HG01845, HG00598, NA19081, HG02728, HG01149, HG01808, HG01796, HG03829, HG01073, NA18573, NA11919, HG03730, NA19084, NA21086, NA19655, NA18626, HG00479, HG01504, HG02121, HG02086, HG04017, HG01101, NA19740, HG04063, NA19009, NA18555, HG02031, HG01936, NA18570, HG01572, HG00240, NA21142, HG02399, HG00445, NA20765, HG03934, HG01992, HG00407, NA18978, HG01858, HG04025, HG03866, HG02089, HG04216, NA18961, NA18559, HG01980, HG04239, HG02064, HG02304, NA20804, NA19010, HG01623, NA20792, HG03869, HG01494, HG02274, HG01260, NA18643, HG02019, HG00662, NA19085, NA18610, HG01862, HG02181, HG01765, HG01432, HG04015, HG03896, HG01935, NA18987, HG00342, NA21101, HG03916, HG03684, HG04098, HG01600, NA19726, HG01872, NA19080, HG04171, HG02186, NA18983, HG01794, HG03922, HG02028, HG01920, HG03882, NA19755, NA19011, NA18624, HG01566, NA19065, HG03955, HG00553, HG02060, NA20772
Known GenesAKNAD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587138
Frequency
Sample Size2504
Observed Gain0
Observed Loss199
Observed Complex0
Frequencyn/a


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