A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780673



Internal ID19180025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:119240639..119249781hg38UCSC Ensembl
Innerchr2:119998215..120007357hg19UCSC Ensembl
Innerchr2:119714685..119723827hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg389143
hg199143
hg189143
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893204
Supporting Variants
Samples
Known GenesSTEAP3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780673
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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