A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11000942



Internal ID1002758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46919793..46948500hg38UCSC Ensembl
Innerchr3:46919833..46948460hg38UCSC Ensembl
Outerchr3:46919753..46948540hg38UCSC Ensembl
chr3:46961283..46989990hg19UCSC Ensembl
Innerchr3:46961323..46989950hg19UCSC Ensembl
Outerchr3:46961243..46990030hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3828708
hg1928708
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596071
Supporting Variants
SamplesHG02153
Known GenesCCDC12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11000942
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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