A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589798



Internal ID6977128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10411894..10417836hg38UCSC Ensembl
Innerchr2:10411944..10417786hg38UCSC Ensembl
Outerchr2:10411844..10417886hg38UCSC Ensembl
chr2:10552020..10557962hg19UCSC Ensembl
Innerchr2:10552070..10557912hg19UCSC Ensembl
Outerchr2:10551970..10558012hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg385943
hg195943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10406924
SamplesNA19066
Known GenesHPCAL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589798
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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