A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11287977



Internal ID1006422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195412809..195423901hg38UCSC Ensembl
Innerchr3:195413309..195423401hg38UCSC Ensembl
Outerchr3:195411809..195424901hg38UCSC Ensembl
chr3:195133538..195144630hg19UCSC Ensembl
Innerchr3:195134038..195144130hg19UCSC Ensembl
Outerchr3:195132538..195145630hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3811093
hg1911093
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599234
Supporting Variants
SamplesHG00629
Known GenesACAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11287977
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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