A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10167786



Internal ID4352228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160408118..160410511hg38UCSC Ensembl
Innerchr1:160408168..160410461hg38UCSC Ensembl
Outerchr1:160408060..160410569hg38UCSC Ensembl
chr1:160377908..160380301hg19UCSC Ensembl
Innerchr1:160377958..160380251hg19UCSC Ensembl
Outerchr1:160377850..160380359hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg382394
hg192394
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587713
Supporting Variants
SamplesHG03888
Known GenesVANGL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10167786
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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