A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745198



Internal ID9979482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:125425291..125427373hg38UCSC Ensembl
Outerchr11:125295187..125297269hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg382083
hg192083
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959165, essv6724439, essv6741017, essv6831257, essv6791796, essv6779403, essv6977056, essv6842377, essv6673069, essv6806329, essv6965686, essv6931770, essv6851078, essv6924270, essv6819629, essv6936061, essv6768449, essv6765735, essv6685030, essv6783514, essv6737851, essv6716728, essv6857112, essv6867072, essv6760927, essv6710676, essv6758188
SamplesSSM027, SSM086, SSM006, SSM084, SSM061, SSM078, SSM043, SSM089, SSM064, SSM031, SSM020, SSM045, SSM067, SSM050, SSM029, SSM021, SSM034, SSM063, SSM087, SSM052, SSM068, SSM074, SSM026, SSM018, SSM059, SSM081, SSM070
Known GenesPKNOX2
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)esv2745198
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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