A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587260



Internal ID6974687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114334456..114342529hg38UCSC Ensembl
Innerchr1:114334462..114342523hg38UCSC Ensembl
Outerchr1:114334450..114342535hg38UCSC Ensembl
chr1:114877078..114885151hg19UCSC Ensembl
Innerchr1:114877084..114885145hg19UCSC Ensembl
Outerchr1:114877072..114885157hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg388074
hg198074
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10079280, essv10079279
SamplesHG03786, NA18523
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587260
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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