A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10208573



Internal ID6097510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183613260..183619263hg38UCSC Ensembl
Innerchr1:183613309..183619214hg38UCSC Ensembl
Outerchr1:183613211..183619312hg38UCSC Ensembl
chr1:183582395..183588398hg19UCSC Ensembl
Innerchr1:183582444..183588349hg19UCSC Ensembl
Outerchr1:183582346..183588447hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg386004
hg196004
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588115
Supporting Variants
SamplesNA19474
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10208573
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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