A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893044



Internal ID18837178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75032657..75048093hg38UCSC Ensembl
Outerchr17:75032657..75048093hg38UCSC Ensembl
Innerchr17:73028752..73044188hg19UCSC Ensembl
Outerchr17:73028752..73044188hg19UCSC Ensembl
Innerchr17:70540347..70555783hg18UCSC Ensembl
Outerchr17:70540347..70555783hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3815437
hg1915437
hg1815437
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25799199
Samples
Known GenesATP5H, KCTD2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893044
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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