A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4031017



Internal ID11730857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:64012571..64012863hg38UCSC Ensembl
chr20:62643924..62644216hg19UCSC Ensembl
chr20:62114368..62114660hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38293
hg19293
hg18293
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1033490
Supporting Variants
SamplesHuRef
Known GenesPRPF6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4031017
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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