A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741884



Internal ID9976171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:119519576..119519746hg38UCSC Ensembl
Outerchr10:121279088..121279258hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6827444, essv6709294, essv6720439
SamplesSSM041, SSM044, SSM080
Known GenesRGS10
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)esv2741884
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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