A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15846880



Internal ID2552396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:40216652..40711246hg38UCSC Ensembl
Innerchr18:40216660..40711239hg38UCSC Ensembl
Outerchr18:40216645..40711254hg38UCSC Ensembl
chr18:37796616..38291210hg19UCSC Ensembl
Innerchr18:37796624..38291203hg19UCSC Ensembl
Outerchr18:37796609..38291218hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38494595
hg19494595
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642295
Supporting Variants
SamplesHG02266
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15846880
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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