A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744490



Internal ID9978774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:48914076..48914825hg38UCSC Ensembl
Outerchr11:48935628..48936377hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38750
hg19750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6904788, essv6931698, essv6976926, essv6710277, essv6959066, essv6970174, essv6927812
SamplesSSM013, SSM029, SSM026, SSM019, SSM006, SSM020, SSM004
Known Genes
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)esv2744490
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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