A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10174947



Internal ID2350345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:163950199..164098210hg38UCSC Ensembl
Innerchr1:163950215..164098195hg38UCSC Ensembl
Outerchr1:163950184..164098226hg38UCSC Ensembl
chr1:163919436..164067447hg19UCSC Ensembl
Innerchr1:163919452..164067432hg19UCSC Ensembl
Outerchr1:163919421..164067463hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38148012
hg19148012
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587782
Supporting Variants
SamplesHG02085
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10174947
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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