A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6966794



Internal ID9643191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:125582894..125588833hg38UCSC Ensembl
Outerchr8:126595138..126601077hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg385940
hg195940
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737550, esv2737545
Supporting Variants
SamplesSSM004
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)essv6966794
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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