A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6884992



Internal ID9933113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:49737751..49739313hg38UCSC Ensembl
Outerchr11:49759303..49760865hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg381563
hg191563
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744504, esv2744485
Supporting Variants
SamplesSSM095
Known GenesLOC440040
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)essv6884992
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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