A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745180



Internal ID9979464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:124207805..124265663hg38UCSC Ensembl
Outerchr11:124078512..124135559hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3857859
hg1957048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6891227, essv6803456, essv6887963, essv6867066, essv6867067, essv6876609, essv6720625, essv6791794, essv6936058, essv6800148, essv6763344, essv6867069, essv6706158, essv6787698, essv6876611, essv6834830, essv6809322, essv6834831, essv6891226, essv6803455, essv6779402, essv6691539, essv6819627, essv6800149, essv6809323, essv6827644, essv6706157, essv6867068, essv6842374, essv6685027, essv6691538, essv6763345, essv6924269, essv6800147
SamplesSSM036, SSM075, SSM097, SSM073, SSM092, SSM084, SSM021, SSM018, SSM069, SSM096, SSM062, SSM089, SSM067, SSM044, SSM040, SSM072, SSM082, SSM078, SSM080, SSM070, SSM034
Known GenesOR8G1, OR8G2, OR8G5
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)esv2745180
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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