A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585890



Internal ID6626204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44694446..44703809hg38UCSC Ensembl
Innerchr1:44694446..44703809hg38UCSC Ensembl
Outerchr1:44694293..44703957hg38UCSC Ensembl
chr1:45160118..45169481hg19UCSC Ensembl
Innerchr1:45160118..45169481hg19UCSC Ensembl
Outerchr1:45159965..45169629hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg389364
hg199364
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9925474
SamplesHG00614
Known GenesC1orf228
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585890
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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