A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11122998



Internal ID1446341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122240809..122244447hg38UCSC Ensembl
Innerchr3:122240809..122244447hg38UCSC Ensembl
Outerchr3:122240647..122244595hg38UCSC Ensembl
chr3:121959656..121963294hg19UCSC Ensembl
Innerchr3:121959656..121963294hg19UCSC Ensembl
Outerchr3:121959494..121963442hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg383639
hg193639
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597604
Supporting Variants
SamplesHG01341
Known GenesCASR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11122998
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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