A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15931336



Internal ID3425317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:70550664..70800007hg38UCSC Ensembl
Innerchr18:70550814..70799857hg38UCSC Ensembl
Outerchr18:70550514..70800157hg38UCSC Ensembl
chr18:68217900..68467243hg19UCSC Ensembl
Innerchr18:68218050..68467093hg19UCSC Ensembl
Outerchr18:68217750..68467393hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg38249344
hg19249344
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642990
Supporting Variants
SamplesHG03061
Known GenesGTSCR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15931336
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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