A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642118



Internal ID7028888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31137846..31138841hg38UCSC Ensembl
Innerchr18:31137846..31138841hg38UCSC Ensembl
Outerchr18:31137724..31139062hg38UCSC Ensembl
chr18:28717809..28718804hg19UCSC Ensembl
Innerchr18:28717809..28718804hg19UCSC Ensembl
Outerchr18:28717687..28719025hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38996
hg19996
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15835519, essv15835520
SamplesHG00607, HG00581
Known GenesDSC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642118
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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