A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9964775



Internal ID656869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70836845..70849409hg38UCSC Ensembl
Innerchr1:70836845..70849409hg38UCSC Ensembl
Outerchr1:70836345..70849909hg38UCSC Ensembl
chr1:71302528..71315092hg19UCSC Ensembl
Innerchr1:71302528..71315092hg19UCSC Ensembl
Outerchr1:71302028..71315592hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3812565
hg1912565
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586365
Supporting Variants
SamplesHG00304
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9964775
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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