A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613231



Internal ID7000129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:55067185..55068116hg38UCSC Ensembl
Innerchr7:55067200..55068101hg38UCSC Ensembl
Outerchr7:55067170..55068131hg38UCSC Ensembl
chr7:55134878..55135809hg19UCSC Ensembl
Innerchr7:55134893..55135794hg19UCSC Ensembl
Outerchr7:55134863..55135824hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38932
hg19932
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12783223, essv12783202, essv12783201, essv12783245, essv12783246, essv12783175, essv12783145, essv12783185, essv12783184, essv12783228, essv12783191, essv12783217, essv12783143, essv12783252, essv12783255, essv12783198, essv12783158, essv12783207, essv12783174, essv12783157, essv12783192, essv12783235, essv12783150, essv12783156, essv12783189, essv12783218, essv12783213, essv12783166, essv12783220, essv12783179, essv12783141, essv12783142, essv12783139, essv12783253, essv12783229, essv12783251, essv12783152, essv12783194, essv12783212, essv12783233, essv12783257, essv12783159, essv12783243, essv12783248, essv12783188, essv12783153, essv12783215, essv12783216, essv12783170, essv12783176, essv12783169, essv12783209, essv12783168, essv12783234, essv12783226, essv12783167, essv12783221, essv12783230, essv12783237, essv12783165, essv12783195, essv12783180, essv12783148, essv12783242, essv12783240, essv12783219, essv12783256, essv12783186, essv12783164, essv12783199, essv12783155, essv12783249, essv12783178, essv12783208, essv12783196, essv12783222, essv12783146, essv12783154, essv12783140, essv12783225, essv12783227, essv12783171, essv12783211, essv12783183, essv12783232, essv12783162, essv12783190, essv12783151, essv12783203, essv12783204, essv12783144, essv12783241, essv12783206, essv12783214, essv12783238, essv12783172, essv12783187, essv12783236, essv12783210, essv12783149, essv12783147, essv12783239, essv12783231, essv12783205, essv12783163, essv12783200, essv12783181, essv12783173, essv12783177, essv12783197, essv12783254, essv12783244, essv12783161, essv12783224, essv12783160, essv12783193, essv12783182, essv12783247, essv12783250
SamplesHG03096, HG02890, NA19700, HG02628, NA19397, HG02583, HG02481, NA19466, HG03175, NA19704, HG03449, NA19092, NA18486, HG03521, NA20294, NA20332, NA19377, HG03297, NA18870, NA18519, HG02621, NA18489, HG03499, NA18923, HG02840, HG02595, NA18916, HG03246, HG03479, NA19384, HG02816, NA20291, HG02922, HG03079, HG02281, HG03520, HG02703, NA18874, HG02634, NA19917, HG02461, NA19238, HG02642, HG01308, NA19172, HG02588, NA18520, HG03225, HG02427, NA18864, HG03267, HG03583, NA18908, HG03114, HG02943, HG02570, HG02439, NA19908, HG03132, NA19175, NA19152, HG02511, HG02108, HG02322, HG03457, HG02144, NA18910, HG03159, HG01880, HG02470, HG01889, HG02555, HG03301, NA19114, NA18499, NA19113, HG03446, HG02884, HG03451, NA19338, HG03391, HG02979, NA19257, NA19225, NA19095, HG02594, NA18858, HG01990, NA19436, HG02813, HG03028, HG02807, NA19147, NA18517, NA19712, HG01958, NA18865, NA19783, HG02814, HG03103, HG03084, HG01912, HG03097, HG03049, HG02053, HG02107, HG02462, NA19711, HG03077, HG01883, HG02947, HG02861, NA19129, HG02851, HG02284, HG03303, HG02006, NA19153, HG02760
Known GenesEGFR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613231
Frequency
Sample Size2504
Observed Gain0
Observed Loss119
Observed Complex0
Frequencyn/a


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