A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6690694



Internal ID9760174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:34607982..34608622hg38UCSC Ensembl
Outerchr7:34647594..34648234hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38641
hg19641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734221, esv2734238, esv2734226
Supporting Variants
SamplesSSM036
Known GenesNPSR1-AS1
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)essv6690694
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