A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593269



Internal ID6980593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166936914..167094748hg38UCSC Ensembl
Innerchr2:166937064..167094598hg38UCSC Ensembl
Outerchr2:166936764..167094898hg38UCSC Ensembl
chr2:167793424..167951258hg19UCSC Ensembl
Innerchr2:167793574..167951108hg19UCSC Ensembl
Outerchr2:167793274..167951408hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38157835
hg19157835
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10750899
SamplesHG01242
Known GenesXIRP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593269
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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