A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642448



Internal ID7029218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46947414..46949882hg38UCSC Ensembl
Innerchr18:46947415..46949881hg38UCSC Ensembl
Outerchr18:46947413..46949883hg38UCSC Ensembl
chr18:44527377..44529845hg19UCSC Ensembl
Innerchr18:44527378..44529844hg19UCSC Ensembl
Outerchr18:44527376..44529846hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg382469
hg192469
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15858042, essv15858043
SamplesNA19684, NA19720
Known GenesKATNAL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642448
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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