A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714884



Internal ID9949169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:93785888..93786206hg38UCSC Ensembl
Outerchr1:94251444..94251762hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6703914, essv6675270, essv6793368, essv6836257, essv6699670, essv6921800, essv6877717, essv6697035, essv6785071, essv6972479, essv6864045, essv6692847
SamplesSSM040, SSM089, SSM071, SSM032, SSM039, SSM083, SSM093, SSM029, SSM069, SSM037, SSM038, SSM018
Known GenesBCAR3
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)esv2714884
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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