A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10253764



Internal ID255581
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588486
Supporting Variants
SamplesHG04159
Known GenesCFHR5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10253764
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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