A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641424



Internal ID6681509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82434625..82462586hg38UCSC Ensembl
chr17:80392501..80420462hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3827962
hg1927962
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15767084, essv15767085
SamplesNA07048, NA20519
Known GenesC17orf62, HEXDC, NARF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641424
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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