A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10742702



Internal ID744518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:162208534..162283002hg38UCSC Ensembl
chr2:163065044..163139512hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3874469
hg1974469
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593179
Supporting Variants
SamplesHG03258
Known GenesFAP, IFIH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10742702
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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