A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6939364



Internal ID10048776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:104527387..104531181hg38UCSC Ensembl
Outerchr7:104167834..104171628hg19UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg383795
hg193795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734962
Supporting Variants
SamplesSSM022
Known GenesLHFPL3
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)essv6939364
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