A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608832



Internal ID6995756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44535318..44544688hg38UCSC Ensembl
Innerchr6:44535335..44544671hg38UCSC Ensembl
Outerchr6:44535301..44544705hg38UCSC Ensembl
chr6:44503055..44512425hg19UCSC Ensembl
Innerchr6:44503072..44512408hg19UCSC Ensembl
Outerchr6:44503038..44512442hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg389371
hg199371
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12333245, essv12333246
SamplesNA19466, NA19454
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608832
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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