A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642229



Internal ID6682310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36455506..36457620hg38UCSC Ensembl
Innerchr18:36455506..36457620hg38UCSC Ensembl
Outerchr18:36455183..36457903hg38UCSC Ensembl
chr18:34035469..34037583hg19UCSC Ensembl
Innerchr18:34035469..34037583hg19UCSC Ensembl
Outerchr18:34035146..34037866hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg382115
hg192115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15842446, essv15842449, essv15842450, essv15842443, essv15842442, essv15842437, essv15842438, essv15842441, essv15842439, essv15842447, essv15842436, essv15842448, essv15842444, essv15842445, essv15842440, essv15842451
SamplesNA19914, NA18504, HG03199, NA20287, NA19027, HG02819, NA19042, NA18856, HG02666, HG01956, HG02813, NA19440, HG03376, NA18511, NA19429, NA19346
Known GenesFHOD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642229
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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