A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641570



Internal ID6681655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2788911..2795604hg38UCSC Ensembl
Innerchr18:2788924..2795591hg38UCSC Ensembl
Outerchr18:2788898..2795617hg38UCSC Ensembl
chr18:2788909..2795602hg19UCSC Ensembl
Innerchr18:2788922..2795589hg19UCSC Ensembl
Outerchr18:2788896..2795615hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg386694
hg196694
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15778339
SamplesHG02790
Known GenesSMCHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641570
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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