A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11526917



Internal ID1528733
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601258
Supporting Variants
SamplesNA18526
Known GenesPTPN13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11526917
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer