A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736700



Internal ID10320336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:18002070..18002898hg38UCSC Ensembl
Outerchr8:17859579..17860407hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38829
hg19829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6952558, essv6814868, essv6755019
SamplesSSM058, SSM077, SSM025
Known GenesPCM1
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)esv2736700
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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