A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585041



Internal ID6625359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3293358..3295622hg38UCSC Ensembl
Innerchr1:3293358..3295622hg38UCSC Ensembl
Outerchr1:3293082..3295906hg38UCSC Ensembl
chr1:3209922..3212186hg19UCSC Ensembl
Innerchr1:3209922..3212186hg19UCSC Ensembl
Outerchr1:3209646..3212470hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg382265
hg192265
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9841972, essv9841971
SamplesHG00581, NA18552
Known GenesPRDM16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585041
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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