A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593460



Internal ID6980784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177203683..177210076hg38UCSC Ensembl
Innerchr2:177203683..177210076hg38UCSC Ensembl
Outerchr2:177203183..177210576hg38UCSC Ensembl
chr2:178068411..178074804hg19UCSC Ensembl
Innerchr2:178068411..178074804hg19UCSC Ensembl
Outerchr2:178067911..178075304hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg386394
hg196394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10770226
SamplesHG02013
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593460
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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