A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641233



Internal ID6681318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74105938..74249469hg38UCSC Ensembl
chr17:72102077..72245608hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38143532
hg19143532
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv587e214
Supporting Variantsessv15737312, essv15737311
SamplesNA12348, NA06989
Known GenesMGC16275, RPL38, TTYH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641233
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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