A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589224



Internal ID6629513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236718383..236727737hg38UCSC Ensembl
Innerchr1:236718383..236727737hg38UCSC Ensembl
Outerchr1:236718301..236727841hg38UCSC Ensembl
chr1:236881683..236891037hg19UCSC Ensembl
Innerchr1:236881683..236891037hg19UCSC Ensembl
Outerchr1:236881601..236891141hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg389355
hg199355
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv80e214
Supporting Variantsessv10338687, essv10338688
SamplesHG00182, NA11832
Known GenesACTN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589224
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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