A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589797



Internal ID6977127
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10406922, essv10406919, essv10406918, essv10406920, essv10406923, essv10406921
SamplesHG03619, NA21114, HG03740, HG03729, HG03872, NA21091
Known GenesHPCAL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589797
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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