A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657932



Internal ID9577351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:81131169..81131342hg38UCSC Ensembl
Outerchr4:81131132..81131392hg38UCSC Ensembl
Innerchr4:82052323..82052496hg19UCSC Ensembl
Outerchr4:82052286..82052546hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6325651, essv5976351, essv6039483, essv5790622
SamplesNA19819, NA18489, NA20296, NA18511
Known GenesPRKG2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657932
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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