A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788238



Internal ID19169639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152619708..152662725hg38UCSC Ensembl
Innerchr1:152592184..152635201hg19UCSC Ensembl
Innerchr1:150858808..150901825hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3843018
hg1943018
hg1843018
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890660
Supporting Variants
Samples
Known GenesLCE3A
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788238
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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