A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677635



Internal ID9597054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:2668023..2671057hg38UCSC Ensembl
Outerchr18:2667986..2671107hg38UCSC Ensembl
Innerchr18:2668022..2671056hg19UCSC Ensembl
Outerchr18:2667985..2671106hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg383122
hg193122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6137855, essv5489045
SamplesNA20773, NA20806
Known GenesSMCHD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677635
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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