A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10318902



Internal ID320718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231399619..231410298hg38UCSC Ensembl
Innerchr1:231399619..231410298hg38UCSC Ensembl
Outerchr1:231399251..231410682hg38UCSC Ensembl
chr1:231535365..231546044hg19UCSC Ensembl
Innerchr1:231535365..231546044hg19UCSC Ensembl
Outerchr1:231534997..231546428hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3810680
hg1910680
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589111
Supporting Variants
SamplesNA18566
Known GenesEGLN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10318902
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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