A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15648041



Internal ID3683734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19752314..19758824hg38UCSC Ensembl
chr17:19655627..19662137hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg386511
hg196511
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640181
Supporting Variants
SamplesHG03291
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15648041
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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