A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736094



Internal ID9970426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:44927764..44928720hg38UCSC Ensembl
Outerchr10:45423212..45424168hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38957
hg19957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6702112, essv6884874, essv6787436
SamplesSSM039, SSM095, SSM069
Known GenesTMEM72, TMEM72-AS1
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)esv2736094
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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