A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593458



Internal ID6980782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177020502..177021305hg38UCSC Ensembl
Innerchr2:177020523..177021285hg38UCSC Ensembl
Outerchr2:177020482..177021326hg38UCSC Ensembl
chr2:177885230..177886033hg19UCSC Ensembl
Innerchr2:177885251..177886013hg19UCSC Ensembl
Outerchr2:177885210..177886054hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38804
hg19804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10770224
SamplesHG02645
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593458
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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