A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744758



Internal ID9979042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:71599899..71899988hg38UCSC Ensembl
Outerchr11:71310945..71611034hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38300090
hg19300090
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6686621, essv6897584, essv6953115, essv6819570, essv6712897, essv6746763, essv6714598, essv6681481, essv6706119, essv6970407, essv6927838, essv6948978, essv6768424, essv6795926, essv6815375, essv6724405, essv6891181
SamplesSSM071, SSM024, SSM045, SSM064, SSM097, SSM042, SSM019, SSM001, SSM033, SSM040, SSM078, SSM005, SSM077, SSM055, SSM025, SSM004, SSM099
Known GenesALG1L9P, DEFB108B, FAM86C1, LOC100129216, LOC100133315, ZNF705E
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)esv2744758
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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