A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13249619



Internal ID3798356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86405279..86406781hg38UCSC Ensembl
Innerchr8:86405307..86406754hg38UCSC Ensembl
Outerchr8:86405252..86406809hg38UCSC Ensembl
chr8:87417508..87419010hg19UCSC Ensembl
Innerchr8:87417536..87418983hg19UCSC Ensembl
Outerchr8:87417481..87419038hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg381503
hg191503
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617910
Supporting Variants
SamplesHG03445
Known GenesWWP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13249619
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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