A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10487692



Internal ID4754540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46441210..46513201hg38UCSC Ensembl
Innerchr2:46441224..46513187hg38UCSC Ensembl
Outerchr2:46441196..46513215hg38UCSC Ensembl
chr2:46668349..46740340hg19UCSC Ensembl
Innerchr2:46668363..46740326hg19UCSC Ensembl
Outerchr2:46668335..46740354hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3871992
hg1971992
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590609
Supporting Variants
SamplesNA10847
Known GenesATP6V1E2, LOC101805491, TMEM247
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10487692
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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