A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15695221



Internal ID2559372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50903053..50923436hg38UCSC Ensembl
chr17:48980414..49000797hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3820384
hg1920384
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640756
Supporting Variants
SamplesHG02274
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15695221
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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