A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10537936



Internal ID4352344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70937113..70938408hg38UCSC Ensembl
Innerchr2:70937114..70938407hg38UCSC Ensembl
Outerchr2:70937112..70938409hg38UCSC Ensembl
chr2:71164243..71165538hg19UCSC Ensembl
Innerchr2:71164244..71165537hg19UCSC Ensembl
Outerchr2:71164242..71165539hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381296
hg191296
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591214
Supporting Variants
SamplesHG03888
Known GenesATP6V1B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10537936
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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