A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv578e214



Internal ID20122001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47350758..47441366hg38UCSC Ensembl
chr17:45428124..45518732hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3890609
hg1990609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3640699, esv3640700
SamplesHG02481, HG02134, HG02121
Known GenesEFCAB13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv578e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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