A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9894217



Internal ID894472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27160870..27165126hg38UCSC Ensembl
Innerchr1:27160938..27165059hg38UCSC Ensembl
Outerchr1:27160803..27165194hg38UCSC Ensembl
chr1:27487361..27491617hg19UCSC Ensembl
Innerchr1:27487429..27491550hg19UCSC Ensembl
Outerchr1:27487294..27491685hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg384257
hg194257
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585553
Supporting Variants
SamplesHG00500
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9894217
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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