A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15856273



Internal ID5858089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:42672657..42677774hg38UCSC Ensembl
Innerchr18:42672657..42677774hg38UCSC Ensembl
Outerchr18:42672479..42677981hg38UCSC Ensembl
chr18:40252622..40257739hg19UCSC Ensembl
Innerchr18:40252622..40257739hg19UCSC Ensembl
Outerchr18:40252444..40257946hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg385118
hg195118
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642361
Supporting Variants
SamplesHG03198
Known GenesLINC00907
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15856273
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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