A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585663



Internal ID6973183
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9896322, essv9896323, essv9896325, essv9896324
SamplesNA12815, HG02649, HG01705, NA19072
Known GenesTMEM39B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585663
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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