A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728073



Internal ID9962385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248188275..248188751hg38UCSC Ensembl
Outerchr1:248351577..248352053hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38477
hg19477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6697146, essv6889211, essv6683016, essv6892523, essv6756705, essv6955102, essv6896016, essv6961892
SamplesSSM027, SSM099, SSM097, SSM034, SSM038, SSM026, SSM098, SSM059
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)esv2728073
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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