A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787952



Internal ID18819879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144072718..144114634hg38UCSC Ensembl
Innerchr4:144993871..145035787hg19UCSC Ensembl
Innerchr4:145213321..145255237hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3841917
hg1941917
hg1841917
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894046
Supporting Variants
Samples
Known GenesGYPA
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787952
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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