A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3331201



Internal ID14831476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:11952..68858hg38UCSC Ensembl
Innerchr4:12952..67858hg38UCSC Ensembl
Outerchr4:10952..69858hg38UCSC Ensembl
chr4:11952..68750hg19UCSC Ensembl
Innerchr4:12952..67750hg19UCSC Ensembl
Outerchr4:10952..69750hg19UCSC Ensembl
chr4:1952..58750hg18UCSC Ensembl
Innerchr4:2952..57750hg18UCSC Ensembl
Outerchr4:952..59750hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3856907
hg1956799
hg1856799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2909e59
Supporting Variantsessv8694365
SamplesNA12878
Known GenesZNF595, ZNF718
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3331201
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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