A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677323



Internal ID9943428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:38677..80667hg38UCSC Ensembl
Outerchr18:38640..80717hg38UCSC Ensembl
Innerchr18:38677..80667hg19UCSC Ensembl
Outerchr18:38640..80717hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3842078
hg1942078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5926821, essv5822163, essv6550528, essv6531802, essv6238540, essv5738982
SamplesHG00592, NA19009, NA18555, HG00614, HG00595, NA19004
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677323
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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