A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11859418



Internal ID1861234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33525469..33657898hg38UCSC Ensembl
chr5:33525574..33658003hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38132430
hg19132430
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604656
Supporting Variants
SamplesNA12717
Known GenesADAMTS12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11859418
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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