A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15669354



Internal ID5671170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37639510..37776211hg38UCSC Ensembl
chr17:35999539..36136181hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38136702
hg19136643
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640501
Supporting Variants
SamplesNA20362
Known GenesDDX52, HNF1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15669354
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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