A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744379



Internal ID10325349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:39093919..39094263hg38UCSC Ensembl
Outerchr11:39115469..39115813hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6795881, essv6819516, essv6976894, essv6775570, essv6959035, essv6876539, essv6931672, essv6702289, essv6823483
SamplesSSM071, SSM079, SSM039, SSM092, SSM029, SSM026, SSM066, SSM020, SSM078
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)esv2744379
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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