A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615392



Internal ID7002281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147314400..147315500hg38UCSC Ensembl
Innerchr7:147314401..147315500hg38UCSC Ensembl
Outerchr7:147314400..147315501hg38UCSC Ensembl
chr7:147011492..147012592hg19UCSC Ensembl
Innerchr7:147011493..147012592hg19UCSC Ensembl
Outerchr7:147011492..147012593hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12998300, essv12998284, essv12998329, essv12998223, essv12998234, essv12998269, essv12998297, essv12998317, essv12998221, essv12998266, essv12998258, essv12998288, essv12998319, essv12998299, essv12998226, essv12998323, essv12998237, essv12998243, essv12998238, essv12998306, essv12998261, essv12998214, essv12998219, essv12998240, essv12998225, essv12998315, essv12998290, essv12998273, essv12998222, essv12998292, essv12998314, essv12998246, essv12998291, essv12998271, essv12998228, essv12998267, essv12998257, essv12998275, essv12998289, essv12998253, essv12998262, essv12998301, essv12998302, essv12998283, essv12998213, essv12998305, essv12998260, essv12998252, essv12998248, essv12998287, essv12998293, essv12998313, essv12998249, essv12998322, essv12998316, essv12998255, essv12998227, essv12998310, essv12998259, essv12998286, essv12998215, essv12998272, essv12998321, essv12998328, essv12998250, essv12998278, essv12998277, essv12998220, essv12998247, essv12998265, essv12998229, essv12998318, essv12998307, essv12998268, essv12998239, essv12998224, essv12998325, essv12998296, essv12998231, essv12998217, essv12998256, essv12998312, essv12998327, essv12998244, essv12998230, essv12998264, essv12998276, essv12998281, essv12998270, essv12998263, essv12998308, essv12998254, essv12998304, essv12998303, essv12998282, essv12998210, essv12998295, essv12998298, essv12998326, essv12998311, essv12998233, essv12998212, essv12998320, essv12998241, essv12998279, essv12998218, essv12998324, essv12998285, essv12998280, essv12998294, essv12998232, essv12998309, essv12998251, essv12998209, essv12998216, essv12998211, essv12998242, essv12998245, essv12998274, essv12998235, essv12998236
SamplesNA20588, HG01462, HG01079, HG03767, NA11920, HG02318, HG02275, NA20813, NA20512, HG01305, HG03941, HG00364, HG00150, HG00097, HG03679, NA12341, HG01500, HG00272, HG03016, HG04022, HG03722, HG02491, NA21130, NA20586, HG04144, NA21108, HG03629, NA12761, HG03868, HG00139, HG00335, HG03968, HG02736, HG00262, HG01072, HG03746, HG01176, NA19722, NA20889, NA21129, NA12828, HG02780, NA20533, HG00323, NA19921, HG03709, HG01183, NA20854, HG03697, HG00268, HG03685, HG02233, HG01122, HG04225, HG01384, HG03907, HG04039, HG03644, HG01088, HG00320, HG02728, NA20875, HG03781, HG02221, HG01630, HG03021, HG01777, HG01414, NA19655, HG02494, NA20581, NA21112, NA11840, NA12249, HG00117, HG00157, HG01497, HG03971, HG03745, HG03914, HG03672, HG00141, HG00246, HG04118, NA12546, HG01589, HG03940, HG01530, NA20765, HG03238, HG02660, HG03598, HG03848, HG04239, HG03838, HG00375, HG00357, HG03899, HG03920, HG01396, HG03488, NA20797, HG04090, NA20357, HG00381, NA20582, HG02230, HG00378, HG03733, HG00186, HG04098, NA11892, HG01125, NA12006, HG03890, NA12154, HG01776, NA20908, HG01061, HG00553, NA12776
Known GenesCNTNAP2, MIR548I4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615392
Frequency
Sample Size2504
Observed Gain0
Observed Loss121
Observed Complex0
Frequencyn/a


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