A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671824



Internal ID9591243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:23709464..23709933hg38UCSC Ensembl
Outerchr18:23709427..23709983hg38UCSC Ensembl
Innerchr18:21289428..21289897hg19UCSC Ensembl
Outerchr18:21289391..21289947hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38557
hg19557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5758677
SamplesNA18505
Known GenesLAMA3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671824
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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