A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16147375



Internal ID6061668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:15364724..15410225hg38UCSC Ensembl
chr20:15345369..15390870hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3845502
hg1945502
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645373
Supporting Variants
SamplesNA19454
Known GenesMACROD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16147375
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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