A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6720379



Internal ID9784500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:46525429..46525738hg38UCSC Ensembl
Outerchr10:47058569..47058878hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736163, esv2736185, esv2736196, esv2736152
Supporting Variants
SamplesSSM044
Known Genes
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)essv6720379
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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