A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14741367



Internal ID6387348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:56374994..56430389hg38UCSC Ensembl
chr13:56949128..57004523hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3855396
hg1955396
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632179
Supporting Variants
SamplesNA20332
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14741367
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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