A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15778337



Internal ID5780153
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641568
Supporting Variants
SamplesNA20858
Known GenesSMCHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15778337
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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