A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1288742



Internal ID12451864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:128005705..128005705hg38UCSC Ensembl
chr6:128326850..128326850hg19UCSC Ensembl
chr6:128368543..128368543hg18UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg384135
hg194135
hg184135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4259415
SamplesHuRef
Known GenesPTPRK
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1288742
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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