A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12972404



Internal ID6304291
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615047
Supporting Variants
SamplesNA19908
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12972404
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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