A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9850211



Internal ID2439793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9439579..9443728hg38UCSC Ensembl
Innerchr1:9439588..9443719hg38UCSC Ensembl
Outerchr1:9439570..9443737hg38UCSC Ensembl
chr1:9499638..9503787hg19UCSC Ensembl
Innerchr1:9499647..9503778hg19UCSC Ensembl
Outerchr1:9499629..9503796hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg384150
hg194150
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585173
Supporting Variants
SamplesHG02150
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9850211
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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