A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792057



Internal ID19168208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13413218..14193616hg38UCSC Ensembl
Innerchr2:13553343..14333741hg19UCSC Ensembl
Innerchr2:13470794..14251192hg18UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38780399
hg19780399
hg18780399
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891537
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=161
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792057
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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