A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641571



Internal ID6681656
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv596e214
Supporting Variantsessv15778340, essv15778341, essv15778342
SamplesHG02790, HG04106, HG01933
Known GenesSMCHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641571
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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