A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9925478



Internal ID1484560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44791869..44793606hg38UCSC Ensembl
Innerchr1:44791869..44793606hg38UCSC Ensembl
Outerchr1:44791677..44793830hg38UCSC Ensembl
chr1:45257541..45259278hg19UCSC Ensembl
Innerchr1:45257541..45259278hg19UCSC Ensembl
Outerchr1:45257349..45259502hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381738
hg191738
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585893
Supporting Variants
SamplesHG01365
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9925478
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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