A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585664



Internal ID6973184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32082413..32088052hg38UCSC Ensembl
Innerchr1:32082913..32087552hg38UCSC Ensembl
Outerchr1:32081413..32089052hg38UCSC Ensembl
chr1:32548014..32553653hg19UCSC Ensembl
Innerchr1:32548514..32553153hg19UCSC Ensembl
Outerchr1:32547014..32554653hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg385640
hg195640
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9896328, essv9896330, essv9896326, essv9896331, essv9896329, essv9896327
SamplesHG03888, NA20892, HG03907, NA21118, HG04017, NA21143
Known GenesTMEM39B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585664
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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