A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12879632



Internal ID2881448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:87679018..87681790hg38UCSC Ensembl
Innerchr7:87679018..87681790hg38UCSC Ensembl
Outerchr7:87679018..87681790hg38UCSC Ensembl
chr7:87308334..87311106hg19UCSC Ensembl
Innerchr7:87308334..87311106hg19UCSC Ensembl
Outerchr7:87308334..87311106hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg382773
hg192773
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614037
Supporting Variants
SamplesNA18560
Known GenesABCB1, RUNDC3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12879632
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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