A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596074



Internal ID6636348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46936636..46948496hg38UCSC Ensembl
Innerchr3:46936636..46948496hg38UCSC Ensembl
Outerchr3:46936136..46948996hg38UCSC Ensembl
chr3:46978126..46989986hg19UCSC Ensembl
Innerchr3:46978126..46989986hg19UCSC Ensembl
Outerchr3:46977626..46990486hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3811861
hg1911861
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11000945, essv11000946
SamplesHG02153, NA07051
Known GenesCCDC12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596074
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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