A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3837720



Internal ID11924151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50615427..50615427hg38UCSC Ensembl
chr3:50652858..50652858hg19UCSC Ensembl
chr3:50627862..50627862hg18UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3888
hg1988
hg1888
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1531131
Supporting Variants
SamplesHuRef
Known GenesMAPKAPK3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3837720
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