A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11116262



Internal ID4896427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119137605..119207994hg38UCSC Ensembl
Innerchr3:119137605..119207994hg38UCSC Ensembl
Outerchr3:119137105..119208494hg38UCSC Ensembl
chr3:118856452..118926841hg19UCSC Ensembl
Innerchr3:118856452..118926841hg19UCSC Ensembl
Outerchr3:118855952..118927341hg19UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg3870390
hg1970390
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597552
Supporting Variants
SamplesNA12489
Known GenesC3orf30, IGSF11, UPK1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11116262
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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