A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10240221



Internal ID4312071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193926549..193938767hg38UCSC Ensembl
Innerchr1:193926599..193938717hg38UCSC Ensembl
Outerchr1:193926499..193938817hg38UCSC Ensembl
chr1:193895679..193907897hg19UCSC Ensembl
Innerchr1:193895729..193907847hg19UCSC Ensembl
Outerchr1:193895629..193907947hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3812219
hg1912219
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588379
Supporting Variants
SamplesHG03864
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10240221
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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