A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676754



Internal ID9942859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:33144992..33157200hg38UCSC Ensembl
Outerchr18:33144835..33157353hg38UCSC Ensembl
Innerchr18:30724956..30737164hg19UCSC Ensembl
Outerchr18:30724799..30737317hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3812519
hg1912519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6409641
SamplesNA11932
Known GenesCCDC178
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676754
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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