A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6778887



Internal ID9837794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:126236683..126237025hg38UCSC Ensembl
Outerchr8:127248927..127249269hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737557, esv2737545
Supporting Variants
SamplesSSM067
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)essv6778887
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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