A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788552



Internal ID19180267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:65896048..65955310hg38UCSC Ensembl
Innerchr5:65191876..65251138hg19UCSC Ensembl
Innerchr5:65227632..65286894hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3859263
hg1959263
hg1859263
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894205
Supporting Variants
Samples
Known GenesERBB2IP, LOC100303749
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=10
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788552
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer