A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6740833



Internal ID10149043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:102885487..102885867hg38UCSC Ensembl
Outerchr10:104645244..104645624hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740251
Supporting Variants
SamplesSSM052
Known GenesAS3MT, C10orf32-ASMT
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)essv6740833
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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