A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730304



Internal ID10313940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:73979860..73980268hg38UCSC Ensembl
Outerchr5:73275685..73276093hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38409
hg19409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6687062, essv6759847, essv6676328, essv6693935, essv6786175, essv6700808, essv6670786, essv6907284, essv6833593
SamplesSSM039, SSM069, SSM061, SSM035, SSM032, SSM031, SSM014, SSM082, SSM037
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)esv2730304
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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