A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642429



Internal ID6682510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46193379..46195681hg38UCSC Ensembl
Innerchr18:46193432..46195628hg38UCSC Ensembl
Outerchr18:46193326..46195734hg38UCSC Ensembl
chr18:43773345..43775647hg19UCSC Ensembl
Innerchr18:43773398..43775594hg19UCSC Ensembl
Outerchr18:43773292..43775700hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg382303
hg192303
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15857826, essv15857818, essv15857821, essv15857819, essv15857825, essv15857823, essv15857824, essv15857822, essv15857820
SamplesHG01241, NA19404, HG01350, HG03538, HG03461, HG02888, NA18879, HG02589, NA19160
Known GenesC18orf25
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642429
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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