A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744656



Internal ID10325626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:67894974..67895179hg38UCSC Ensembl
Outerchr11:67662445..67662650hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv143e201
Supporting Variantsessv6771955, essv6857028, essv6712884, essv6812137, essv6959092, essv6672970, essv6879405, essv6850999, essv6827600, essv6965611, essv6815366, essv6876564, essv6806288, essv6970340, essv6803412, essv6916026
SamplesSSM027, SSM065, SSM087, SSM073, SSM093, SSM074, SSM042, SSM092, 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)esv2744656
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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