A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15613380



Internal ID6571842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:13024862..13150964hg38UCSC Ensembl
chr17:12928179..13054281hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38126103
hg19126103
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639983
Supporting Variants
SamplesNA20760
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15613380
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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