A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792541



Internal ID19180882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33947453..34666991hg38UCSC Ensembl
Innerchr12:34100388..34819926hg19UCSC Ensembl
Innerchr12:33991655..34711193hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg38719539
hg19719539
hg18719539
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892180
Supporting Variants
Samples
Known GenesALG10
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=80
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792541
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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