A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14822807



Internal ID6505881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:85215226..85248807hg38UCSC Ensembl
chr13:85789361..85822942hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3833582
hg1933582
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632970
Supporting Variants
SamplesNA20535
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14822807
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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