A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11521224



Internal ID1523041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83294247..83325214hg38UCSC Ensembl
Innerchr4:83294397..83325064hg38UCSC Ensembl
Outerchr4:83294097..83325364hg38UCSC Ensembl
chr4:84215400..84246367hg19UCSC Ensembl
Innerchr4:84215550..84246217hg19UCSC Ensembl
Outerchr4:84215250..84246517hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg3830968
hg1930968
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601192
Supporting Variants
SamplesHG01176
Known GenesHPSE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11521224
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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