A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6952358



Internal ID10060664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158330061..158331080hg38UCSC Ensembl
Outerchr7:158122753..158123772hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg381020
hg191020
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735922
Supporting Variants
SamplesSSM025
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)essv6952358
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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