A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736920



Internal ID9971253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:40612224..40613018hg38UCSC Ensembl
Outerchr8:40469743..40470537hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38795
hg19795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6707442, essv6935402
SamplesSSM006, SSM021
Known GenesZMAT4
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)esv2736920
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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