A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15372005



Internal ID5373821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8773680..8813326hg38UCSC Ensembl
chr16:8867537..8907183hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3839647
hg1939647
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637845
Supporting Variants
SamplesHG02104
Known GenesABAT, PMM2, TMEM186
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15372005
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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