A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10079257



Internal ID81073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113852261..113853452hg38UCSC Ensembl
Innerchr1:113852275..113853439hg38UCSC Ensembl
Outerchr1:113852248..113853466hg38UCSC Ensembl
chr1:114394883..114396074hg19UCSC Ensembl
Innerchr1:114394897..114396061hg19UCSC Ensembl
Outerchr1:114394870..114396088hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381192
hg191192
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587250
Supporting Variants
SamplesNA19917
Known GenesPTPN22
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10079257
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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