A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10540502



Internal ID5488181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73457807..73461352hg38UCSC Ensembl
Innerchr2:73457834..73461326hg38UCSC Ensembl
Outerchr2:73457781..73461379hg38UCSC Ensembl
chr2:73684934..73688479hg19UCSC Ensembl
Innerchr2:73684961..73688453hg19UCSC Ensembl
Outerchr2:73684908..73688506hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg383546
hg193546
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591260
Supporting Variants
SamplesNA18980
Known GenesALMS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10540502
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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