A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10791396



Internal ID6916245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:187365861..187375368hg38UCSC Ensembl
Innerchr2:187366361..187374868hg38UCSC Ensembl
Outerchr2:187364861..187376368hg38UCSC Ensembl
chr2:188230588..188240095hg19UCSC Ensembl
Innerchr2:188231088..188239595hg19UCSC Ensembl
Outerchr2:188229588..188241095hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg389508
hg199508
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593690
Supporting Variants
SamplesNA21116
Known GenesCALCRL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10791396
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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