A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4117624



Internal ID11400163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75032878..75032878hg38UCSC Ensembl
chr14:75499581..75499581hg19UCSC Ensembl
chr14:74569334..74569334hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38325
hg19325
hg18325
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1578153
Supporting Variants
SamplesHuRef
Known GenesMLH3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4117624
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer