A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637845



Internal ID6677945
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15372000, essv15372005, essv15372002, essv15372003, essv15372004, essv15372001
SamplesHG01615, HG01492, HG02104, HG01253, HG00566, HG00531
Known GenesABAT, PMM2, TMEM186
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637845
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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