A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5838200



Internal ID8815603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32085198..32085693hg38UCSC Ensembl
chr5:32085304..32085799hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2675462
Supporting Variants
SamplesNA18909
Known GenesPDZD2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5838200
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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