A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642427



Internal ID7029197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46119678..46129156hg38UCSC Ensembl
Innerchr18:46119694..46129141hg38UCSC Ensembl
Outerchr18:46119663..46129172hg38UCSC Ensembl
chr18:43699644..43709122hg19UCSC Ensembl
Innerchr18:43699660..43709107hg19UCSC Ensembl
Outerchr18:43699629..43709138hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg389479
hg199479
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15857813, essv15857812
SamplesNA19028, NA19072
Known GenesHAUS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642427
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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