A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9896327



Internal ID4382134
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585664
Supporting Variants
SamplesHG03907
Known GenesTMEM39B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9896327
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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