A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9863398



Internal ID4832717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:14221418..14230632hg38UCSC Ensembl
Innerchr1:14221418..14230632hg38UCSC Ensembl
Outerchr1:14221365..14230694hg38UCSC Ensembl
chr1:14547913..14557127hg19UCSC Ensembl
Innerchr1:14547913..14557127hg19UCSC Ensembl
Outerchr1:14547860..14557189hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg389215
hg199215
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585279
Supporting Variants
SamplesNA12058
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9863398
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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