A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744570



Internal ID9978854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:60329865..60330558hg38UCSC Ensembl
Outerchr11:60097338..60098031hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38694
hg19694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6746746, essv6938029, essv6944801, essv6749585, essv6779334, essv6677695, essv6920027, essv6834777, essv6716672, essv6752481, essv6970263, essv6940202
SamplesSSM057, SSM023, SSM017, SSM032, SSM003, SSM067, SSM082, SSM022, SSM055, SSM004, SSM043, SSM056
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)esv2744570
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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