A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4107958



Internal ID11653917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39706275..39706275hg38UCSC Ensembl
chr13:40280412..40280412hg19UCSC Ensembl
chr13:39178412..39178412hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3862
hg1962
hg1862
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1608257
Supporting Variants
SamplesHuRef
Known GenesCOG6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4107958
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