A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640699



Internal ID6680785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47350758..47415625hg38UCSC Ensembl
chr17:45428124..45492991hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3864868
hg1964868
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv578e214
Supporting Variantsessv15687906, essv15687907
SamplesHG02481, HG02121
Known GenesEFCAB13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640699
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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