A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6672238



Internal ID9738797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141335179..141335312hg38UCSC Ensembl
Outerchr8:142345278..142345411hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737772, esv2737770, esv2737756, esv2737771, esv2737775, esv2737774, esv2737776
Supporting Variants
SamplesSSM031
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)essv6672238
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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