A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749041



Internal ID9983325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:63444354..63444958hg38UCSC Ensembl
Outerchr1:63910025..63910629hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38605
hg19605
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6738848, essv6773481, essv6747818, essv6780928, essv6941836, essv6736006
SamplesSSM050, SSM023, SSM066, SSM068, SSM052, SSM056
Known GenesITGB3BP
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)esv2749041
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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