A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10316545



Internal ID6046355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229824722..229826137hg38UCSC Ensembl
Innerchr1:229824759..229826101hg38UCSC Ensembl
Outerchr1:229824686..229826174hg38UCSC Ensembl
chr1:229960469..229961884hg19UCSC Ensembl
Innerchr1:229960506..229961848hg19UCSC Ensembl
Outerchr1:229960433..229961921hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381416
hg191416
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589080
Supporting Variants
SamplesNA19445
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10316545
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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