A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6731861



Internal ID9795471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:112439879..112440363hg38UCSC Ensembl
Outerchr10:114199637..114200121hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38485
hg19485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2741029
Supporting Variants
SamplesSSM047
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)essv6731861
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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