A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662314



Internal ID9928419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:118322558..118325922hg38UCSC Ensembl
chr4:119243713..119247077hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg383365
hg193365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6255063, essv6012237, essv6480737, essv6199630, essv6280534, essv5764520, essv6274707, essv6041411, essv5706277
SamplesHG00306, HG00369, HG00281, HG01149, NA11919, NA06986, HG00111, HG00329, HG00345
Known GenesPRSS12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662314
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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