A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731395



Internal ID9965713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:3457156..3457636hg38UCSC Ensembl
Outerchr10:3499348..3499828hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38481
hg19481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6795661, essv6799849, essv6771721, essv6976459
SamplesSSM071, SSM065, SSM029, SSM072
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)esv2731395
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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