A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv596e214



Internal ID20122019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2789998..2793638hg38UCSC Ensembl
chr18:2789996..2793636hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg383641
hg193641
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3641571, esv3641573
SamplesHG02790, HG04106, HG01933
Known GenesSMCHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv596e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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