A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608820



Internal ID6995744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43824834..43828826hg38UCSC Ensembl
Innerchr6:43824846..43828815hg38UCSC Ensembl
Outerchr6:43824823..43828838hg38UCSC Ensembl
chr6:43792571..43796563hg19UCSC Ensembl
Innerchr6:43792583..43796552hg19UCSC Ensembl
Outerchr6:43792560..43796575hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg383993
hg193993
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12330630
SamplesNA18978
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608820
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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