A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6749402



Internal ID9811181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:3060882..3061424hg38UCSC Ensembl
Outerchr10:3103074..3103616hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38543
hg19543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730995, esv2731095
Supporting Variants
SamplesSSM056
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)essv6749402
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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