A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737715



Internal ID9972054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:139677840..139678084hg38UCSC Ensembl
Outerchr8:140690083..140690327hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6775207, essv6672228, essv6931229
SamplesSSM031, SSM020, SSM066
Known GenesKCNK9
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)esv2737715
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