A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604594



Internal ID6644844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31948292..32125560hg38UCSC Ensembl
chr5:31948398..32125666hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38177269
hg19177269
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11854961, essv11854960, essv11854959
SamplesHG03832, NA20289, NA12717
Known GenesGOLPH3, PDZD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604594
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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