A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640330



Internal ID7027105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29953806..29964320hg38UCSC Ensembl
chr17:28280824..28291338hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3810515
hg1910515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15657254
SamplesHG02769
Known GenesEFCAB5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640330
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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