A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641572



Internal ID6681657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2789998..2793382hg38UCSC Ensembl
chr18:2789996..2793380hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg383385
hg193385
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15778345, essv15778346, essv15778344, essv15778343
SamplesNA19108, HG00592, NA20515, HG03854
Known GenesSMCHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641572
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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