A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6876573



Internal ID10272397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:73709108..73715876hg38UCSC Ensembl
Outerchr11:73420153..73426921hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg386769
hg196769
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744772
Supporting Variants
SamplesSSM092
Known GenesRAB6A
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)essv6876573
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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