A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585924



Internal ID6973443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45992106..45996106hg38UCSC Ensembl
Innerchr1:45992114..45996099hg38UCSC Ensembl
Outerchr1:45992099..45996114hg38UCSC Ensembl
chr1:46457778..46461778hg19UCSC Ensembl
Innerchr1:46457786..46461771hg19UCSC Ensembl
Outerchr1:46457771..46461786hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg384001
hg194001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9925865, essv9925862, essv9925863, essv9925864, essv9925861
SamplesNA20356, HG03085, HG03109, HG03367, HG01125
Known GenesMAST2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585924
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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