A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759218



Internal ID18386778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:33008515..33012790hg38UCSC Ensembl
Outerchr1:33008151..33013272hg38UCSC Ensembl
Innerchr1:33474116..33478391hg19UCSC Ensembl
Outerchr1:33473752..33478873hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg385122
hg195122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560471
Supporting Variants
Samples
Known GenesAK2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759218
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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