A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744417



Internal ID10325387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:44721399..44722139hg38UCSC Ensembl
Outerchr11:44742949..44743689hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38741
hg19741
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6948925, essv6931681, essv6770620, essv6716647, essv6976907, essv6695404, essv6965557, essv6779306, essv6827567, essv6823494, essv6959050, essv6935975, essv6806256, essv6795888
SamplesSSM008, SSM071, SSM027, SSM024, SSM079, SSM074, SSM021, SSM029, SSM026, SSM067, SSM020, SSM080, SSM037, SSM043
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)esv2744417
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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