A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10338686



Internal ID4557227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236650594..236662715hg38UCSC Ensembl
Innerchr1:236650594..236662715hg38UCSC Ensembl
Outerchr1:236650094..236663215hg38UCSC Ensembl
chr1:236813894..236826015hg19UCSC Ensembl
Innerchr1:236813894..236826015hg19UCSC Ensembl
Outerchr1:236813394..236826515hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3812122
hg1912122
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589223
Supporting Variants
SamplesHG04060
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10338686
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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