A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585557



Internal ID6973079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27218941..27223423hg38UCSC Ensembl
Innerchr1:27219441..27222923hg38UCSC Ensembl
Outerchr1:27217941..27224423hg38UCSC Ensembl
chr1:27545432..27549914hg19UCSC Ensembl
Innerchr1:27545932..27549414hg19UCSC Ensembl
Outerchr1:27544432..27550914hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg384483
hg194483
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9894228, essv9894226, essv9894225, essv9894229, essv9894227, essv9894230
SamplesNA21110, NA20911, NA20896, NA21114, HG03643, NA21125
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585557
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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