A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734890



Internal ID9969220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100214547..100344543hg38UCSC Ensembl
Outerchr7:99812170..99942166hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38129997
hg19129997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6740268, essv6927099, essv6715833, essv6802807, essv6763575, essv6919183
SamplesSSM008, SSM073, SSM017, SSM019, SSM043, SSM052
Known GenesGATS, PMS2P1, PVRIG, SPDYE3, STAG3L5P, 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)esv2734890
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer