A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744645



Internal ID9978929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:67668477..67669126hg38UCSC Ensembl
Outerchr11:67435948..67436597hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38650
hg19650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6882243, essv6965609, essv6770920
SamplesSSM027, SSM094, SSM008
Known GenesALDH3B2
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)esv2744645
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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