A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12864871



Internal ID3918946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:81471149..81482798hg38UCSC Ensembl
Innerchr7:81471151..81482797hg38UCSC Ensembl
Outerchr7:81471148..81482800hg38UCSC Ensembl
chr7:81100465..81112114hg19UCSC Ensembl
Innerchr7:81100467..81112113hg19UCSC Ensembl
Outerchr7:81100464..81112116hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3811650
hg1911650
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613889
Supporting Variants
SamplesHG03572
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12864871
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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