A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631768



Internal ID7018577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35728033..35731559hg38UCSC Ensembl
chr13:36302170..36305696hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg383527
hg193527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14688589, essv14688591, essv14688584, essv14688585, essv14688590, essv14688587, essv14688586, essv14688588
SamplesHG04210, HG01031, HG02318, NA18877, NA19920, NA19159, HG03124, HG03354
Known GenesMIR548F5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631768
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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