A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587354



Internal ID6974780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121262812..121275638hg38UCSC Ensembl
Innerchr1:121262812..121275638hg38UCSC Ensembl
Outerchr1:121262312..121276138hg38UCSC Ensembl
chr1:120747699..120760526hg19UCSC Ensembl
Innerchr1:120747699..120760526hg19UCSC Ensembl
Outerchr1:120747199..120761026hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3812827
hg1912828
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10085183, essv10085185, essv10085186, essv10085180, essv10085184, essv10085181, essv10085179, essv10085190, essv10085189, essv10085182, essv10085187, essv10085188
SamplesHG00100, NA11920, NA11933, HG01605, HG01784, NA19657, NA19788, HG03967, HG01414, HG00250, HG00276, NA12763
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587354
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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