A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6890732



Internal ID10013142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:129415763..129417056hg38UCSC Ensembl
Outerchr7:129055604..129056897hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg381294
hg191294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735148
Supporting Variants
SamplesSSM012
Known GenesAHCYL2
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)essv6890732
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