A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15809849



Internal ID5811665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11854535..11856683hg38UCSC Ensembl
Innerchr18:11854535..11856683hg38UCSC Ensembl
Outerchr18:11854338..11856926hg38UCSC Ensembl
chr18:11854534..11856682hg19UCSC Ensembl
Innerchr18:11854534..11856682hg19UCSC Ensembl
Outerchr18:11854337..11856925hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg382149
hg192149
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641816
Supporting Variants
SamplesNA19248
Known GenesGNAL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15809849
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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