A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642128



Internal ID7028898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31452459..31454052hg38UCSC Ensembl
Innerchr18:31452459..31454052hg38UCSC Ensembl
Outerchr18:31452212..31454313hg38UCSC Ensembl
chr18:29032422..29034015hg19UCSC Ensembl
Innerchr18:29032422..29034015hg19UCSC Ensembl
Outerchr18:29032175..29034276hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg381594
hg191594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15837654, essv15837657, essv15837656, essv15837658, essv15837655
SamplesHG00232, HG00141, HG00258, HG00274, NA11832
Known GenesDSG3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642128
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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