A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15575930



Internal ID5481700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:840725..872651hg38UCSC Ensembl
chr17:743965..775891hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3831927
hg1931927
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639647
Supporting Variants
SamplesNA18978
Known GenesNXN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15575930
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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