A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990876



Internal ID7077007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:174068691..174068743hg38UCSC Ensembl
chr5:173495694..173495746hg19UCSC Ensembl
chr5:173428300..173428352hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3573261
SamplesHuRef
Known GenesHMP19
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990876
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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