A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15578197



Internal ID4786604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:974047..1009493hg38UCSC Ensembl
chr17:877287..912733hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3835447
hg1935447
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639665
Supporting Variants
SamplesNA11918
Known GenesABR, NXN, TIMM22
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15578197
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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