A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15835519



Internal ID949237
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642118
Supporting Variants
SamplesHG00581
Known GenesDSC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15835519
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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