A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12861912



Internal ID3283670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:80985666..80991710hg38UCSC Ensembl
Innerchr7:80985666..80991710hg38UCSC Ensembl
Outerchr7:80985346..80991868hg38UCSC Ensembl
chr7:80614982..80621026hg19UCSC Ensembl
Innerchr7:80614982..80621026hg19UCSC Ensembl
Outerchr7:80614662..80621184hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg386045
hg196045
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613874
Supporting Variants
SamplesHG02895
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12861912
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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