A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9896324



Internal ID4948692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32078770..32083164hg38UCSC Ensembl
Innerchr1:32079270..32082664hg38UCSC Ensembl
Outerchr1:32077770..32084164hg38UCSC Ensembl
chr1:32544371..32548765hg19UCSC Ensembl
Innerchr1:32544871..32548265hg19UCSC Ensembl
Outerchr1:32543371..32549765hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg384395
hg194395
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585663
Supporting Variants
SamplesNA12815
Known GenesTMEM39B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9896324
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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