A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6681017



Internal ID10097213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:60565618..60565811hg38UCSC Ensembl
Outerchr8:61478177..61478370hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737066
Supporting Variants
SamplesSSM033
Known GenesRAB2A
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)essv6681017
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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