A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6963917



Internal ID9643601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100358730..100373822hg38UCSC Ensembl
Outerchr7:99956353..99971445hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3815093
hg1915093
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734888, esv2734891
Supporting Variants
SamplesSSM004
Known GenesPILRA, PILRB, STAG3L5P-PVRIG2P-PILRB
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)essv6963917
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