A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4259415



Internal ID11541953
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1288742
Supporting Variants
SamplesHuRef
Known GenesPTPRK
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4259415
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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