A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15842495



Internal ID5741918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:37170921..37178505hg38UCSC Ensembl
Innerchr18:37170921..37178505hg38UCSC Ensembl
Outerchr18:37170421..37179005hg38UCSC Ensembl
chr18:34750884..34758468hg19UCSC Ensembl
Innerchr18:34750884..34758468hg19UCSC Ensembl
Outerchr18:34750384..34758968hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg387585
hg197585
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642244
Supporting Variants
SamplesNA19116
Known GenesKIAA1328
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15842495
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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