A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3993951



Internal ID11421236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:66683377..66683377hg38UCSC Ensembl
chr14:67150095..67150095hg19UCSC Ensembl
chr14:66219848..66219848hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38138
hg19138
hg18138
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1426305
Supporting Variants
SamplesHuRef
Known GenesGPHN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3993951
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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