A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641265



Internal ID6681350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75465751..75477877hg38UCSC Ensembl
chr17:73461832..73473958hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3812127
hg1912127
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15740669
SamplesHG02805
Known GenesKIAA0195
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641265
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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