A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613685



Internal ID7000581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:73417177..73418772hg38UCSC Ensembl
Innerchr7:73417224..73418725hg38UCSC Ensembl
Outerchr7:73417130..73418819hg38UCSC Ensembl
chr7:72831507..72833102hg19UCSC Ensembl
Innerchr7:72831554..72833055hg19UCSC Ensembl
Outerchr7:72831460..72833149hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381596
hg191596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12841027, essv12841031, essv12841029, essv12841028, essv12841032, essv12841030, essv12841033, essv12841026
SamplesNA19922, HG01281, HG01275, NA21122, HG00313, NA20524, HG01253, NA06994
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613685
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer