A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640709



Internal ID6680795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48076094..48081980hg38UCSC Ensembl
chr17:46153456..46159342hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg385887
hg195887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15687993, essv15687992, essv15687991, essv15687994
SamplesHG01599, HG01841, HG01921, HG01846
Known GenesCBX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640709
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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