A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10344046



Internal ID5511722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:239264816..239270171hg38UCSC Ensembl
Innerchr1:239264816..239270171hg38UCSC Ensembl
Outerchr1:239264599..239270363hg38UCSC Ensembl
chr1:239428116..239433471hg19UCSC Ensembl
Innerchr1:239428116..239433471hg19UCSC Ensembl
Outerchr1:239427899..239433663hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg385356
hg195356
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589272
Supporting Variants
SamplesNA18989
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10344046
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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