A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788425



Internal ID18835885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50242444..50647850hg38UCSC Ensembl
Innerchr10:52002204..52407610hg19UCSC Ensembl
Innerchr10:51672210..52077616hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38405407
hg19405407
hg18405407
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891809
Supporting Variants
Samples
Known GenesASAH2, SGMS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=126
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788425
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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