A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10511158



Internal ID512974
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590843
Supporting Variants
SamplesNA20868
Known GenesSPTBN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10511158
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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