A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6771867



Internal ID10179482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133129336..133129912hg38UCSC Ensembl
Outerchr10:134942840..134943416hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38577
hg19577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743826
Supporting Variants
SamplesSSM065
Known GenesGPR123
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)essv6771867
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