A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15650662



Internal ID1591872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21100381..21118102hg38UCSC Ensembl
chr17:21003694..21021415hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3817722
hg1917722
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640226
Supporting Variants
SamplesHG01479
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15650662
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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