A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4276678



Internal ID11212530
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1695463
Supporting Variants
SamplesHuRef
Known GenesADAMTS2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4276678
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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