A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9850154



Internal ID461715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9074075..9076841hg38UCSC Ensembl
Innerchr1:9074090..9076826hg38UCSC Ensembl
Outerchr1:9074060..9076856hg38UCSC Ensembl
chr1:9134134..9136900hg19UCSC Ensembl
Innerchr1:9134149..9136885hg19UCSC Ensembl
Outerchr1:9134119..9136915hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg382767
hg192767
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585162
Supporting Variants
SamplesHG00146
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9850154
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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