A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6935198



Internal ID10044010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158330815..158331314hg38UCSC Ensembl
Outerchr7:158123507..158124006hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735926, esv2735925, esv2735923
Supporting Variants
SamplesSSM021
Known GenesPTPRN2
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)essv6935198
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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