A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11528409



Internal ID5661401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88188701..88193157hg38UCSC Ensembl
Innerchr4:88188730..88193128hg38UCSC Ensembl
Outerchr4:88188672..88193186hg38UCSC Ensembl
chr4:89109853..89114309hg19UCSC Ensembl
Innerchr4:89109882..89114280hg19UCSC Ensembl
Outerchr4:89109824..89114338hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg384457
hg194457
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601299
Supporting Variants
SamplesNA19072
Known GenesABCG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11528409
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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