A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601258



Internal ID6641515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:86558468..86701058hg38UCSC Ensembl
Innerchr4:86558477..86701050hg38UCSC Ensembl
Outerchr4:86558460..86701067hg38UCSC Ensembl
chr4:87479621..87622211hg19UCSC Ensembl
Innerchr4:87479630..87622203hg19UCSC Ensembl
Outerchr4:87479613..87622220hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg38142591
hg19142591
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11526917
SamplesNA18526
Known GenesPTPN13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601258
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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