A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640602



Internal ID7027377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42359619..42372386hg38UCSC Ensembl
chr17:40511637..40524404hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3812768
hg1912768
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15679060, essv15679058, essv15679059, essv15679061
SamplesHG00367, NA18635, HG00380, HG00190
Known GenesSTAT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640602
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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