A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12214123



Internal ID3095425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:19564751..19572484hg38UCSC Ensembl
Innerchr6:19564752..19572483hg38UCSC Ensembl
Outerchr6:19564750..19572485hg38UCSC Ensembl
chr6:19564982..19572715hg19UCSC Ensembl
Innerchr6:19564983..19572714hg19UCSC Ensembl
Outerchr6:19564981..19572716hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg387734
hg197734
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608276
Supporting Variants
SamplesHG02721
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12214123
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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