A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613863



Internal ID7000758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:80630779..80650752hg38UCSC Ensembl
Innerchr7:80630779..80650752hg38UCSC Ensembl
Outerchr7:80630524..80651032hg38UCSC Ensembl
chr7:80260095..80280068hg19UCSC Ensembl
Innerchr7:80260095..80280068hg19UCSC Ensembl
Outerchr7:80259840..80280348hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3819974
hg1919974
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12861235, essv12861233, essv12861230, essv12861232, essv12861234, essv12861231, essv12861238, essv12861237, essv12861229, essv12861239, essv12861228, essv12861236
SamplesHG02386, HG02166, HG01029, HG00956, HG01812, HG02391, HG02398, HG02367, HG02396, HG02186, HG01794, HG01807
Known GenesCD36
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613863
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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