A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15426934



Internal ID5428750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23596807..23605086hg38UCSC Ensembl
chr16:23608128..23616407hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg388280
hg198280
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638230
Supporting Variants
SamplesNA12776
Known GenesPALB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15426934
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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