A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9753528



Internal ID18727774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75044201..75044440hg38UCSC Ensembl
Outerchr17:75044132..75044539hg38UCSC Ensembl
Innerchr17:73040296..73040535hg19UCSC Ensembl
Outerchr17:73040227..73040634hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3554781
Supporting Variants
Samples
Known GenesATP5H
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9753528
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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