A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13204380



Internal ID3206196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56076138..56077258hg38UCSC Ensembl
Innerchr8:56076138..56077258hg38UCSC Ensembl
Outerchr8:56076042..56077340hg38UCSC Ensembl
chr8:56988697..56989817hg19UCSC Ensembl
Innerchr8:56988697..56989817hg19UCSC Ensembl
Outerchr8:56988601..56989899hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381121
hg191121
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617289
Supporting Variants
SamplesNA19404
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13204380
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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