A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4016868



Internal ID11745005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67499587..67499587hg38UCSC Ensembl
chr11:67267058..67267058hg19UCSC Ensembl
chr11:67023634..67023634hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38220
hg19220
hg18220
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1382014
Supporting Variants
SamplesHuRef
Known GenesPITPNM1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4016868
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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