A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11528411



Internal ID5974682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88194469..88199946hg38UCSC Ensembl
Innerchr4:88194619..88199796hg38UCSC Ensembl
Outerchr4:88194319..88200096hg38UCSC Ensembl
chr4:89115621..89121098hg19UCSC Ensembl
Innerchr4:89115771..89120948hg19UCSC Ensembl
Outerchr4:89115471..89121248hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg385478
hg195478
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601300
Supporting Variants
SamplesNA19383
Known GenesABCG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11528411
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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