A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585918



Internal ID6973437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45821415..45822776hg38UCSC Ensembl
Innerchr1:45821416..45822775hg38UCSC Ensembl
Outerchr1:45821414..45822777hg38UCSC Ensembl
chr1:46287087..46288448hg19UCSC Ensembl
Innerchr1:46287088..46288447hg19UCSC Ensembl
Outerchr1:46287086..46288449hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381362
hg191362
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9925804, essv9925803, essv9925802, essv9925796, essv9925801, essv9925800, essv9925805, essv9925795, essv9925798, essv9925799, essv9925797
SamplesHG02583, NA18877, HG02952, NA18923, HG03224, HG03209, NA18915, HG02884, HG02309, NA19019, HG02721
Known GenesMAST2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585918
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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