A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641127



Internal ID6681212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:69302699..69328559hg38UCSC Ensembl
chr17:67298840..67324700hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3825861
hg1925861
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15730610
SamplesHG01250
Known GenesABCA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641127
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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