A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9863397



Internal ID5881515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:14131338..14138703hg38UCSC Ensembl
Innerchr1:14131348..14138694hg38UCSC Ensembl
Outerchr1:14131329..14138713hg38UCSC Ensembl
chr1:14457833..14465198hg19UCSC Ensembl
Innerchr1:14457843..14465189hg19UCSC Ensembl
Outerchr1:14457824..14465208hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg387366
hg197366
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585278
Supporting Variants
SamplesNA19308
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9863397
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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