A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789571



Internal ID19179370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:122195957..122574778hg38UCSC Ensembl
Innerchr2:122953533..123332354hg19UCSC Ensembl
Innerchr2:122670003..123048824hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38378822
hg19378822
hg18378822
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893237
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=82
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789571
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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