A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743824



Internal ID10324794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133112894..133113314hg38UCSC Ensembl
Outerchr10:134926398..134926818hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6791653, essv6958935
SamplesSSM026, SSM070
Known GenesGPR123
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)esv2743824
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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