A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731062



Internal ID9965379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:3048533..3048630hg38UCSC Ensembl
Outerchr10:3090725..3090822hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6827330
SamplesSSM080
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)esv2731062
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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