A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15778342



Internal ID5780158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2789998..2793382hg38UCSC Ensembl
chr18:2789996..2793380hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg383385
hg193385
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641571
Supporting Variants
SamplesHG04106
Known GenesSMCHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15778342
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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