A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6859239



Internal ID9914187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:66575919..66578936hg38UCSC Ensembl
Outerchr1:67041602..67044619hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg383018
hg193018
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749364
Supporting Variants
SamplesSSM088
Known GenesSGIP1
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)essv6859239
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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