A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11526820



Internal ID1528636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:86055222..86058804hg38UCSC Ensembl
Innerchr4:86055223..86058804hg38UCSC Ensembl
Outerchr4:86055222..86058805hg38UCSC Ensembl
chr4:86976375..86979957hg19UCSC Ensembl
Innerchr4:86976376..86979957hg19UCSC Ensembl
Outerchr4:86976375..86979958hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg383583
hg193583
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601253
Supporting Variants
SamplesHG03868
Known GenesMAPK10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11526820
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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