A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788936



Internal ID19165178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:19379195..19470582hg38UCSC Ensembl
Innerchr3:19420687..19512074hg19UCSC Ensembl
Innerchr3:19395691..19487078hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3891388
hg1991388
hg1891388
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893665
Supporting Variants
Samples
Known GenesKCNH8
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=18
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788936
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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