A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894205



Internal ID19185274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:65896048..65955310hg38UCSC Ensembl
Outerchr5:65896048..65955310hg38UCSC Ensembl
Innerchr5:65191876..65251138hg19UCSC Ensembl
Outerchr5:65191876..65251138hg19UCSC Ensembl
Innerchr5:65227632..65286894hg18UCSC Ensembl
Outerchr5:65227632..65286894hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3859263
hg1959263
hg1859263
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788552
Samples
Known GenesERBB2IP, LOC100303749
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894205
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