A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741040



Internal ID9975371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:112440032..112440124hg38UCSC Ensembl
Outerchr10:114199790..114199882hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6862077
SamplesSSM088
Known GenesZDHHC6
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)esv2741040
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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