A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640926



Internal ID6681011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60440546..60447832hg38UCSC Ensembl
chr17:58517907..58525193hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg387287
hg197287
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15715551
SamplesHG00263
Known GenesAPPBP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640926
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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