A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590602



Internal ID6977931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46189091..46194979hg38UCSC Ensembl
Innerchr2:46189115..46194956hg38UCSC Ensembl
Outerchr2:46189068..46195003hg38UCSC Ensembl
chr2:46416230..46422118hg19UCSC Ensembl
Innerchr2:46416254..46422095hg19UCSC Ensembl
Outerchr2:46416207..46422142hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg385889
hg195889
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10487666, essv10487665
SamplesNA19446, NA19468
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590602
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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