A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10728686



Internal ID1411437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158844815..158942201hg38UCSC Ensembl
chr2:159701327..159798713hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3897387
hg1997387
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593091
Supporting Variants
SamplesHG01280
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10728686
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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