A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3314n100



Internal ID20154930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2721635..2776813hg38UCSC Ensembl
chr18:2721633..2776811hg19UCSC Ensembl
chr18:2711633..2766811hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3855179
hg1955179
hg1855179
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1065421, nsv1059639
Samples
Known GenesSMCHD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3314n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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