A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6689328



Internal ID9757962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:111414686..111415120hg38UCSC Ensembl
Outerchr1:111957308..111957742hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38435
hg19435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716218
Supporting Variants
SamplesSSM036
Known GenesOVGP1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6689328
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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