A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587540



Internal ID6627842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152039189..152043364hg38UCSC Ensembl
Innerchr1:152039222..152043331hg38UCSC Ensembl
Outerchr1:152039156..152043397hg38UCSC Ensembl
chr1:152011665..152015840hg19UCSC Ensembl
Innerchr1:152011698..152015807hg19UCSC Ensembl
Outerchr1:152011632..152015873hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg384176
hg194176
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10145884
SamplesHG02053
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587540
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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