A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15883258



Internal ID1014571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54561638..54566668hg38UCSC Ensembl
Innerchr18:54561673..54566633hg38UCSC Ensembl
Outerchr18:54561603..54566703hg38UCSC Ensembl
chr18:52228869..52233899hg19UCSC Ensembl
Innerchr18:52228904..52233864hg19UCSC Ensembl
Outerchr18:52228834..52233934hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg385031
hg195031
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642582
Supporting Variants
SamplesHG00634
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15883258
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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