A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9863403



Internal ID6025425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:14292710..14296025hg38UCSC Ensembl
Innerchr1:14292710..14296025hg38UCSC Ensembl
Outerchr1:14292531..14296137hg38UCSC Ensembl
chr1:14619205..14622520hg19UCSC Ensembl
Innerchr1:14619205..14622520hg19UCSC Ensembl
Outerchr1:14619026..14622632hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg383316
hg193316
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585283
Supporting Variants
SamplesNA19435
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9863403
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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