A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6964789



Internal ID10071709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:84287032..84287599hg38UCSC Ensembl
Outerchr8:85199267..85199834hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg38568
hg19568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737255
Supporting Variants
SamplesSSM027
Known GenesRALYL
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)essv6964789
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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