A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612997



Internal ID6653209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43585283..43592494hg38UCSC Ensembl
Innerchr7:43585283..43592494hg38UCSC Ensembl
Outerchr7:43584962..43592833hg38UCSC Ensembl
chr7:43624882..43632093hg19UCSC Ensembl
Innerchr7:43624882..43632093hg19UCSC Ensembl
Outerchr7:43624561..43632432hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg387212
hg197212
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12756472, essv12756498, essv12756468, essv12756499, essv12756459, essv12756432, essv12756503, essv12756501, essv12756463, essv12756493, essv12756451, essv12756458, essv12756449, essv12756475, essv12756489, essv12756454, essv12756473, essv12756492, essv12756435, essv12756464, essv12756476, essv12756484, essv12756480, essv12756439, essv12756487, essv12756448, essv12756436, essv12756460, essv12756500, essv12756495, essv12756477, essv12756504, essv12756455, essv12756431, essv12756488, essv12756505, essv12756482, essv12756486, essv12756490, essv12756508, essv12756466, essv12756453, essv12756485, essv12756479, essv12756507, essv12756445, essv12756471, essv12756483, essv12756434, essv12756452, essv12756447, essv12756481, essv12756444, essv12756430, essv12756433, essv12756474, essv12756478, essv12756491, essv12756443, essv12756441, essv12756461, essv12756440, essv12756469, essv12756446, essv12756465, essv12756494, essv12756470, essv12756456, essv12756437, essv12756438, essv12756457, essv12756502, essv12756506, essv12756467, essv12756462, essv12756496, essv12756450, essv12756442, essv12756497
SamplesNA19648, HG02652, HG00242, HG01773, HG00187, NA11931, NA12004, HG00115, HG01518, HG00150, NA12400, HG00097, NA12750, HG01694, HG00327, HG01366, HG01779, HG01064, HG00173, HG01459, HG01710, NA11918, HG00334, NA19681, HG02489, NA19922, HG00139, HG00120, HG00335, HG01519, HG00262, HG01369, NA12815, HG01259, HG00118, HG02260, HG01133, NA12828, NA20587, HG01524, NA10847, HG00183, HG00328, NA12003, HG01790, HG01271, HG01630, HG01392, HG01414, HG03858, HG02577, HG01707, NA12249, NA12827, HG01334, HG01403, HG00141, HG01257, NA20765, HG01363, NA20522, HG02282, HG01980, HG01678, HG02220, HG01685, HG02232, HG00125, HG00107, HG01765, NA20334, HG00234, HG01431, HG01775, HG01378, HG00171, NA20827, HG01618, HG01507
Known GenesSTK17A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612997
Frequency
Sample Size2504
Observed Gain0
Observed Loss79
Observed Complex0
Frequencyn/a


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