A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991289



Internal ID6727253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179313305..179313722hg38UCSC Ensembl
chr5:178740306..178740723hg19UCSC Ensembl
chr5:178672912..178673329hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38418
hg19418
hg18418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3567610
SamplesHuRef
Known GenesADAMTS2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991289
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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