A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601190



Internal ID6988229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83120183..83121625hg38UCSC Ensembl
Innerchr4:83120183..83121625hg38UCSC Ensembl
Outerchr4:83119930..83121860hg38UCSC Ensembl
chr4:84041336..84042778hg19UCSC Ensembl
Innerchr4:84041336..84042778hg19UCSC Ensembl
Outerchr4:84041083..84043013hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg381443
hg191443
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11521209, essv11521214, essv11521211, essv11521218, essv11521217, essv11521212, essv11521213, essv11521210, essv11521216, essv11521215
SamplesHG00315, NA20532, HG01710, HG00346, HG00369, NA12044, NA20753, NA11840, HG00125, NA12749
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601190
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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