A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614627



Internal ID7001520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:112694906..112695352hg38UCSC Ensembl
Innerchr7:112694922..112695336hg38UCSC Ensembl
Outerchr7:112694890..112695368hg38UCSC Ensembl
chr7:112334961..112335407hg19UCSC Ensembl
Innerchr7:112334977..112335391hg19UCSC Ensembl
Outerchr7:112334945..112335423hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38447
hg19447
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12930471, essv12930465, essv12930470, essv12930467, essv12930478, essv12930462, essv12930473, essv12930468, essv12930463, essv12930474, essv12930477, essv12930476, essv12930464, essv12930466, essv12930469, essv12930475, essv12930472
SamplesNA19703, HG02891, HG03139, HG03577, HG01242, HG03209, HG02715, HG02819, NA18934, HG02322, NA18915, HG01989, NA19095, HG01990, HG02759, HG02971, HG03063
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614627
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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