A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15897403



Internal ID2022598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:60009733..60020689hg38UCSC Ensembl
Innerchr18:60009752..60020671hg38UCSC Ensembl
Outerchr18:60009715..60020708hg38UCSC Ensembl
chr18:57676965..57687921hg19UCSC Ensembl
Innerchr18:57676984..57687903hg19UCSC Ensembl
Outerchr18:57676947..57687940hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg3810957
hg1910957
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642683
Supporting Variants
SamplesHG01861
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15897403
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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