A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10815392



Internal ID1238587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196448968..196452833hg38UCSC Ensembl
Innerchr2:196448968..196452833hg38UCSC Ensembl
Outerchr2:196448860..196453024hg38UCSC Ensembl
chr2:197313692..197317557hg19UCSC Ensembl
Innerchr2:197313692..197317557hg19UCSC Ensembl
Outerchr2:197313584..197317748hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg383866
hg193866
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593889
Supporting Variants
SamplesHG01095
Known GenesHECW2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10815392
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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