A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6755286



Internal ID9817047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:44866139..44866733hg38UCSC Ensembl
Outerchr10:45361587..45362181hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38595
hg19595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736072
Supporting Variants
SamplesSSM058
Known GenesTMEM72-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)essv6755286
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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