A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993563



Internal ID6729520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42564101..42564184hg38UCSC Ensembl
chr5:42564203..42564286hg19UCSC Ensembl
chr5:42599960..42600043hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3884
hg1984
hg1884
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3567847
SamplesHuRef
Known GenesGHR
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993563
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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