A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995097



Internal ID7063189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158144565..158151122hg38UCSC Ensembl
Outerchr7:157937257..157943814hg19UCSC Ensembl
Outerchr7:157630018..157636575hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3819366
hg1919366
hg1819366
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564643
SamplesHuRef
Known GenesPTPRN2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995097
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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