A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588486



Internal ID6975903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196970045..196983172hg38UCSC Ensembl
Innerchr1:196970045..196983172hg38UCSC Ensembl
Outerchr1:196969763..196983524hg38UCSC Ensembl
chr1:196939175..196952302hg19UCSC Ensembl
Innerchr1:196939175..196952302hg19UCSC Ensembl
Outerchr1:196938893..196952654hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3813128
hg1913128
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10253764, essv10253765, essv10253759, essv10253763, essv10253767, essv10253766, essv10253761, essv10253762, essv10253758, essv10253760
SamplesHG03926, HG04164, HG04238, HG03858, HG04159, HG04216, HG03695, HG04003, HG04015, HG03931
Known GenesCFHR5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588486
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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