A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10479639



Internal ID6107810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42616164..42623867hg38UCSC Ensembl
Innerchr2:42616164..42623867hg38UCSC Ensembl
Outerchr2:42615664..42624367hg38UCSC Ensembl
chr2:42843304..42851007hg19UCSC Ensembl
Innerchr2:42843304..42851007hg19UCSC Ensembl
Outerchr2:42842804..42851507hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg387704
hg197704
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590507
Supporting Variants
SamplesNA19649
Known GenesMTA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10479639
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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