A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892889



Internal ID19183709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75529848..75538114hg38UCSC Ensembl
Outerchr16:75524585..75541512hg38UCSC Ensembl
Innerchr16:75563746..75572012hg19UCSC Ensembl
Outerchr16:75558483..75575410hg19UCSC Ensembl
Innerchr16:74121247..74129513hg18UCSC Ensembl
Outerchr16:74115984..74132911hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3816928
hg1916928
hg1816928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792337, essv25792816
Samples
Known GenesCHST5, TMEM231
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892889
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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