A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640331



Internal ID7027106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29953806..29964320hg38UCSC Ensembl
chr17:28280824..28291338hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3810515
hg1910515
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15657256, essv15657257, essv15657255
SamplesHG03663, HG03697, NA20852
Known GenesEFCAB5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640331
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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