A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10983703



Internal ID2747387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:37959533..37960545hg38UCSC Ensembl
Innerchr3:37959583..37960495hg38UCSC Ensembl
Outerchr3:37959469..37960609hg38UCSC Ensembl
chr3:38001024..38002036hg19UCSC Ensembl
Innerchr3:38001074..38001986hg19UCSC Ensembl
Outerchr3:38000960..38002100hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg381013
hg191013
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595904
Supporting Variants
SamplesHG02410
Known GenesCTDSPL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10983703
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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