A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13224820



Internal ID3606892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:72931534..72933034hg38UCSC Ensembl
Innerchr8:72931554..72933014hg38UCSC Ensembl
Outerchr8:72931514..72933054hg38UCSC Ensembl
chr8:73843769..73845269hg19UCSC Ensembl
Innerchr8:73843789..73845249hg19UCSC Ensembl
Outerchr8:73843749..73845289hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg381501
hg191501
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617624
Supporting Variants
SamplesHG03196
Known GenesKCNB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13224820
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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