A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593266



Internal ID6633546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166906997..166943753hg38UCSC Ensembl
chr2:167763507..167800263hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3836757
hg1936757
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10750896, essv10750895
SamplesHG01242, HG02558
Known GenesXIRP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593266
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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