A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9935839



Internal ID6561132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:55029182..55043363hg38UCSC Ensembl
Innerchr1:55029197..55043348hg38UCSC Ensembl
Outerchr1:55029167..55043378hg38UCSC Ensembl
chr1:55494855..55509036hg19UCSC Ensembl
Innerchr1:55494870..55509021hg19UCSC Ensembl
Outerchr1:55494840..55509051hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3814182
hg1914182
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586108
Supporting Variants
SamplesHG01503
Known GenesPCSK9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9935839
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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