A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6919183



Internal ID9682856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100218416..100345831hg38UCSC Ensembl
Outerchr7:99816039..99943454hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38127416
hg19127416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734890, esv2734888
Supporting Variants
SamplesSSM017
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)essv6919183
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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