A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10487665



Internal ID6046872
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590602
Supporting Variants
SamplesNA19446
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10487665
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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