A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744655



Internal ID10325625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:67894917..67895547hg38UCSC Ensembl
Outerchr11:67662388..67663018hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38631
hg19631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6760883, essv6771955, essv6770932, essv6857028, essv6712884, essv6812137, essv6959092, essv6672970, essv6879405, essv6850999, essv6827600, essv6965611, essv6815366, essv6876564, essv6806288, essv6970340, essv6803412, essv6916026
SamplesSSM008, SSM027, SSM065, SSM087, SSM073, SSM093, SSM074, SSM042, SSM092, SSM061, SSM026, SSM031, SSM086, SSM016, SSM080, SSM077, SSM076, SSM004
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)esv2744655
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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