A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6354300



Internal ID9331703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3996116..3997472hg38UCSC Ensembl
Outerchr18:3995745..3997842hg38UCSC Ensembl
Innerchr18:3996116..3997472hg19UCSC Ensembl
Outerchr18:3995745..3997842hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg382098
hg192098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2662794
Supporting Variants
SamplesHG01389
Known GenesDLGAP1, DLGAP1-AS4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6354300
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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