A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617289



Internal ID6657485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56076138..56077258hg38UCSC Ensembl
Innerchr8:56076138..56077258hg38UCSC Ensembl
Outerchr8:56076042..56077340hg38UCSC Ensembl
chr8:56988697..56989817hg19UCSC Ensembl
Innerchr8:56988697..56989817hg19UCSC Ensembl
Outerchr8:56988601..56989899hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381121
hg191121
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13204350, essv13204352, essv13204378, essv13204351, essv13204361, essv13204363, essv13204376, essv13204362, essv13204381, essv13204354, essv13204368, essv13204366, essv13204371, essv13204355, essv13204374, essv13204364, essv13204375, essv13204367, essv13204365, essv13204382, essv13204359, essv13204380, essv13204357, essv13204372, essv13204377, essv13204356, essv13204379, essv13204369, essv13204370, essv13204360, essv13204353, essv13204373, essv13204358
SamplesHG03514, HG02496, HG02583, NA19332, HG03241, HG02836, HG02323, NA18878, HG02536, HG02895, HG02541, NA19131, HG02922, NA19404, NA19327, HG02322, HG01092, NA19461, NA19118, HG03476, HG03391, NA19257, HG02256, HG01890, HG02586, NA19390, HG03103, HG02771, NA19818, HG03565, HG03060, HG02051, HG02760
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617289
Frequency
Sample Size2504
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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