A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6757813



Internal ID9818934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:24464715..24464972hg38UCSC Ensembl
Outerchr8:24322228..24322485hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736766
Supporting Variants
SamplesSSM059
Known GenesADAM7
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)essv6757813
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer