A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11370049



Internal ID1371865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:22389216..22392058hg38UCSC Ensembl
Innerchr4:22389216..22392058hg38UCSC Ensembl
Outerchr4:22389022..22392268hg38UCSC Ensembl
chr4:22390839..22393681hg19UCSC Ensembl
Innerchr4:22390839..22393681hg19UCSC Ensembl
Outerchr4:22390645..22393891hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg382843
hg192843
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599899
Supporting Variants
SamplesHG00259
Known GenesGPR125
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11370049
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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