A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12195942



Internal ID5936614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13808129..13811848hg38UCSC Ensembl
Innerchr6:13808179..13811798hg38UCSC Ensembl
Outerchr6:13808079..13811898hg38UCSC Ensembl
chr6:13808361..13812080hg19UCSC Ensembl
Innerchr6:13808411..13812030hg19UCSC Ensembl
Outerchr6:13808311..13812130hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg383720
hg193720
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608137
Supporting Variants
SamplesNA19347
Known GenesMCUR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12195942
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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