A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588459



Internal ID6975876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196044045..196045897hg38UCSC Ensembl
Innerchr1:196044045..196045897hg38UCSC Ensembl
Outerchr1:196043900..196046081hg38UCSC Ensembl
chr1:196013175..196015027hg19UCSC Ensembl
Innerchr1:196013175..196015027hg19UCSC Ensembl
Outerchr1:196013030..196015211hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg381853
hg191853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10246751, essv10246752
SamplesHG00634, NA18868
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588459
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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