A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590843



Internal ID6631127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54498959..54501020hg38UCSC Ensembl
Innerchr2:54498960..54501020hg38UCSC Ensembl
Outerchr2:54498959..54501021hg38UCSC Ensembl
chr2:54726096..54728157hg19UCSC Ensembl
Innerchr2:54726097..54728157hg19UCSC Ensembl
Outerchr2:54726096..54728158hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg382062
hg192062
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10511160, essv10511158, essv10511159
SamplesNA20868, NA21129, NA21117
Known GenesSPTBN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590843
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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