A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744569



Internal ID9978853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:60310239..60485227hg38UCSC Ensembl
Outerchr11:60077712..60252700hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38174989
hg19174989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6728224, essv6746746, essv6938029, essv6823526, essv6944801, essv6749585, essv6779334, essv6677695, essv6920027, essv6834777, essv6716672, essv6752481, essv6695430, essv6970263, essv6779335, essv6940202, essv6691495
SamplesSSM036, SSM046, SSM079, SSM057, SSM023, SSM017, SSM032, SSM003, SSM067, SSM082, SSM037, SSM022, SSM055, SSM004, SSM043, SSM056
Known GenesMS4A1, MS4A14, MS4A5, MS4A6E, MS4A7
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)esv2744569
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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