A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6948728



Internal ID9708765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:28143593..28143871hg38UCSC Ensembl
Outerchr10:28432522..28432800hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734606, esv2734783
Supporting Variants
SamplesSSM024
Known GenesMPP7
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)essv6948728
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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