A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4178522



Internal ID11461060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:64759016..64759016hg38UCSC Ensembl
chr11:64526488..64526488hg19UCSC Ensembl
chr11:64283064..64283064hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3875
hg1975
hg1875
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1261955
Supporting Variants
SamplesHuRef
Known GenesPYGM
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4178522
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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