A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1695463



Internal ID12511896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179313385..179313463hg38UCSC Ensembl
chr5:178740386..178740464hg19UCSC Ensembl
chr5:178672992..178673070hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3879
hg1979
hg1879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4276678
SamplesHuRef
Known GenesADAMTS2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1695463
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