A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6681291



Internal ID9750773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:44866242..44866712hg38UCSC Ensembl
Outerchr10:45361690..45362160hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38471
hg19471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736072
Supporting Variants
SamplesSSM033
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)essv6681291
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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