A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9841972



Internal ID6467265
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585041
Supporting Variants
SamplesNA18552
Known GenesPRDM16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9841972
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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