A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733905



Internal ID10317541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:19769303..19769689hg38UCSC Ensembl
Outerchr10:20058232..20058618hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6882073, essv6976518, essv6740779, essv6897395, essv6720363, essv6731780, essv6900387, essv6830993, essv6758000, essv6702090, essv6743780, essv6695183, essv6749432, essv6677492, essv6970432, essv6768248
SamplesSSM100, SSM059, SSM064, SSM039, SSM028, SSM047, SSM029, SSM094, SSM032, SSM044, SSM081, SSM053, SSM037, SSM099, SSM052, SSM056
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)esv2733905
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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