A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25799199



Internal ID18832660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75032657..75048093hg38UCSC Ensembl
Innerchr17:73028752..73044188hg19UCSC Ensembl
Innerchr17:70540347..70555783hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3815437
hg1915437
hg1815437
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893044
Supporting Variants
Samples
Known GenesATP5H, KCTD2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25799199
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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