A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631674



Internal ID7018482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30411539..30412795hg38UCSC Ensembl
Innerchr13:30411540..30412795hg38UCSC Ensembl
Outerchr13:30411539..30412796hg38UCSC Ensembl
chr13:30985676..30986932hg19UCSC Ensembl
Innerchr13:30985677..30986932hg19UCSC Ensembl
Outerchr13:30985676..30986933hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381257
hg191257
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14680915, essv14680890, essv14680911, essv14680909, essv14680905, essv14680904, essv14680895, essv14680894, essv14680887, essv14680889, essv14680900, essv14680907, essv14680886, essv14680899, essv14680892, essv14680891, essv14680888, essv14680912, essv14680906, essv14680914, essv14680908, essv14680910, essv14680913, essv14680896, essv14680902, essv14680897, essv14680898, essv14680903, essv14680893, essv14680901
SamplesNA18486, HG03190, NA19377, HG03135, HG02620, HG03342, HG02816, NA19026, NA19239, NA19445, NA19982, HG03027, HG01390, HG03354, NA19308, HG03367, NA19434, HG01958, NA19380, HG02611, HG01375, NA19324, HG03473, NA19818, NA19351, HG02646, NA19474, HG03401, NA19312, HG01097
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631674
Frequency
Sample Size2504
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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