A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15884290



Internal ID5886106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55531027..55535129hg38UCSC Ensembl
Innerchr18:55531083..55535074hg38UCSC Ensembl
Outerchr18:55530972..55535185hg38UCSC Ensembl
chr18:53198258..53202360hg19UCSC Ensembl
Innerchr18:53198314..53202305hg19UCSC Ensembl
Outerchr18:53198203..53202416hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg384103
hg194103
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642597
Supporting Variants
SamplesHG00595
Known GenesTCF4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15884290
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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