A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6841829



Internal ID10241129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:26002726..26003113hg38UCSC Ensembl
Outerchr8:25860242..25860629hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736785
Supporting Variants
SamplesSSM084
Known GenesEBF2
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)essv6841829
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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