A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593265



Internal ID6633545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166895527..166898159hg38UCSC Ensembl
Innerchr2:166895545..166898142hg38UCSC Ensembl
Outerchr2:166895510..166898177hg38UCSC Ensembl
chr2:167752037..167754669hg19UCSC Ensembl
Innerchr2:167752055..167754652hg19UCSC Ensembl
Outerchr2:167752020..167754687hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg382633
hg192633
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10750894
SamplesNA20534
Known GenesXIRP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593265
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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