A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731084



Internal ID9965401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:3053553..3053834hg38UCSC Ensembl
Outerchr10:3095745..3096026hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6976451, essv6856620, essv6958641, essv6815140, essv6866674, essv6861927, essv6908492, essv6965178, essv6850599, essv6672555, essv6819244
SamplesSSM027, SSM087, SSM088, SSM029, SSM026, SSM089, SSM031, SSM014, SSM086, SSM078, SSM077
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)esv2731084
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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