A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14836941



Internal ID5128828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:88827588..88878400hg38UCSC Ensembl
chr13:89479842..89530654hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg3850813
hg1950813
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633074
Supporting Variants
SamplesNA18566
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14836941
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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