A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6764201



Internal ID9825840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:68128629..68129699hg38UCSC Ensembl
Outerchr1:68594312..68595382hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381071
hg191071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749463
Supporting Variants
SamplesSSM063
Known GenesGNG12-AS1, WLS
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)essv6764201
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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