A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744781



Internal ID9979065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:75127461..75127647hg38UCSC Ensembl
Outerchr11:74838506..74838692hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6834793, essv6970440, essv6953122, essv6940230
SamplesSSM082, SSM022, SSM025, 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)esv2744781
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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