A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6791167



Internal ID9850226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:17408118..17408398hg38UCSC Ensembl
Outerchr8:17265627..17265907hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736687
Supporting Variants
SamplesSSM070
Known GenesMTMR7
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)essv6791167
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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