A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14657117



Internal ID5805646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19215557..19439094hg38UCSC Ensembl
chr13:19789697..20013234hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38223538
hg19223538
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631384
Supporting Variants
SamplesNA19184
Known GenesANKRD26P3, LINC00421, TPTE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14657117
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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