A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6826862



Internal ID10227658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158333719..158336764hg38UCSC Ensembl
Outerchr7:158126411..158129456hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg383046
hg193046
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735929, esv2735925, esv2735931
Supporting Variants
SamplesSSM080
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)essv6826862
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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