A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10470873



Internal ID472689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39739671..39743358hg38UCSC Ensembl
Innerchr2:39739675..39743355hg38UCSC Ensembl
Outerchr2:39739668..39743362hg38UCSC Ensembl
chr2:39966811..39970498hg19UCSC Ensembl
Innerchr2:39966815..39970495hg19UCSC Ensembl
Outerchr2:39966808..39970502hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg383688
hg193688
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590439
Supporting Variants
SamplesNA19204
Known GenesTHUMPD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10470873
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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