A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10406921



Internal ID4328432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10397578..10405018hg38UCSC Ensembl
Innerchr2:10397578..10405018hg38UCSC Ensembl
Outerchr2:10397394..10405215hg38UCSC Ensembl
chr2:10537704..10545144hg19UCSC Ensembl
Innerchr2:10537704..10545144hg19UCSC Ensembl
Outerchr2:10537520..10545341hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg387441
hg197441
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589797
Supporting Variants
SamplesHG03872
Known GenesHPCAL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10406921
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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