A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593271



Internal ID6980595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:167004744..167121873hg38UCSC Ensembl
chr2:167861254..167978383hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38117130
hg19117130
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10750901
SamplesHG01242
Known GenesXIRP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593271
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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