A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6750639



Internal ID9812325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:63239714..63242456hg38UCSC Ensembl
Outerchr1:63705385..63708127hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg382743
hg192743
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749030
Supporting Variants
SamplesSSM057
Known GenesLINC00466
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)essv6750639
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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