A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9884057



Internal ID6509350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21375851..21487594hg38UCSC Ensembl
Innerchr1:21375851..21487594hg38UCSC Ensembl
Outerchr1:21375351..21488094hg38UCSC Ensembl
chr1:21702344..21814087hg19UCSC Ensembl
Innerchr1:21702344..21814087hg19UCSC Ensembl
Outerchr1:21701844..21814587hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38111744
hg19111744
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585443
Supporting Variants
SamplesHG02798
Known GenesNBPF3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9884057
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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