A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11565200



Internal ID822028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:112028234..112074094hg38UCSC Ensembl
Innerchr4:112028248..112074081hg38UCSC Ensembl
Outerchr4:112028221..112074108hg38UCSC Ensembl
chr4:112949390..112995250hg19UCSC Ensembl
Innerchr4:112949404..112995237hg19UCSC Ensembl
Outerchr4:112949377..112995264hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3845861
hg1945861
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601794
Supporting Variants
SamplesHG00407
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11565200
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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