A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15700314



Internal ID2828931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:53788006..53792074hg38UCSC Ensembl
chr17:51865367..51869435hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg384069
hg194069
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640808
Supporting Variants
SamplesHG02494
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15700314
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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