A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6684381



Internal ID10098834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158331833..158337471hg38UCSC Ensembl
Outerchr7:158124525..158130163hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg385639
hg195639
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735929, esv2735925, esv2735923
Supporting Variants
SamplesSSM034
Known GenesPTPRN2
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)essv6684381
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