A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9894230



Internal ID6937513
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585557
Supporting Variants
SamplesNA21125
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9894230
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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