A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4328432



Internal ID11264284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179174954..179175022hg38UCSC Ensembl
chr5:178601955..178602023hg19UCSC Ensembl
chr5:178534561..178534629hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3869
hg1969
hg1869
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1300070
Supporting Variants
SamplesHuRef
Known GenesADAMTS2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4328432
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