A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15937344



Internal ID4721724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:76219439..76221893hg38UCSC Ensembl
Innerchr18:76219464..76221869hg38UCSC Ensembl
Outerchr18:76219415..76221918hg38UCSC Ensembl
chr18:73931394..73933848hg19UCSC Ensembl
Innerchr18:73931419..73933824hg19UCSC Ensembl
Outerchr18:73931370..73933873hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg382455
hg192455
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643166
Supporting Variants
SamplesNA06984
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15937344
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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