A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641568



Internal ID6681653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2683163..2733657hg38UCSC Ensembl
chr18:2683161..2733655hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3850495
hg1950495
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15778337, essv15778336
SamplesHG01624, NA20858
Known GenesSMCHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641568
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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