A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6948212



Internal ID9709230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:149581372..149629325hg38UCSC Ensembl
Outerchr7:149278463..149326416hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3847954
hg1947954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735332
Supporting Variants
SamplesSSM024
Known GenesZNF767
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)essv6948212
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