A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894195



Internal ID18838578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60697464..60793609hg38UCSC Ensembl
Outerchr5:60697464..60793609hg38UCSC Ensembl
Innerchr5:59993291..60089436hg19UCSC Ensembl
Outerchr5:59993291..60089436hg19UCSC Ensembl
Innerchr5:60029048..60125193hg18UCSC Ensembl
Outerchr5:60029048..60125193hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3896146
hg1996146
hg1896146
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25783344
Samples
Known GenesDEPDC1B, ELOVL7
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894195
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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