A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10433334



Internal ID1943713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26224365..26227465hg38UCSC Ensembl
Innerchr2:26224396..26227434hg38UCSC Ensembl
Outerchr2:26224334..26227496hg38UCSC Ensembl
chr2:26447233..26450333hg19UCSC Ensembl
Innerchr2:26447264..26450302hg19UCSC Ensembl
Outerchr2:26447202..26450364hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383101
hg193101
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590113
Supporting Variants
SamplesHG01806
Known GenesHADHA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10433334
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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