A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743822



Internal ID10324792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133112205..133112480hg38UCSC Ensembl
Outerchr10:134925709..134925984hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6927754, essv6870571, essv6862138
SamplesSSM088, SSM090, SSM019
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)esv2743822
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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