A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14837077



Internal ID5128654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:88964091..88989360hg38UCSC Ensembl
chr13:89616345..89641614hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg3825270
hg1925270
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633080
Supporting Variants
SamplesNA18566
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14837077
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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