A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6836726



Internal ID10236722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:84650363..84653721hg38UCSC Ensembl
Outerchr3:84699514..84702872hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg383359
hg193359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725617
Supporting Variants
SamplesSSM083
Known GenesLINC00971
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)essv6836726
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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