A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15362768



Internal ID1388207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2650514..2690486hg38UCSC Ensembl
chr16:2700515..2740487hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3839973
hg1939973
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637635
Supporting Variants
SamplesHG01256
Known GenesERVK13-1, KCTD5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15362768
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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