A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615047



Internal ID7001936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:131773467..131776009hg38UCSC Ensembl
Innerchr7:131773467..131776009hg38UCSC Ensembl
Outerchr7:131773245..131776296hg38UCSC Ensembl
chr7:131458226..131460768hg19UCSC Ensembl
Innerchr7:131458226..131460768hg19UCSC Ensembl
Outerchr7:131458004..131461055hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg382543
hg192543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12972394, essv12972395, essv12972403, essv12972401, essv12972402, essv12972397, essv12972396, essv12972393, essv12972392, essv12972404, essv12972400, essv12972398, essv12972399
SamplesNA18877, HG03385, HG03556, HG02882, NA19908, HG03547, HG03571, HG03109, NA19435, HG01958, NA19324, HG03066, HG03351
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615047
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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