A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14778097



Internal ID5159130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:66668408..66753143hg38UCSC Ensembl
chr13:67242540..67327275hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3884736
hg1984736
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632520
Supporting Variants
SamplesNA18592
Known GenesPCDH9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14778097
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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