A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642764



Internal ID6682844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63212096..63212655hg38UCSC Ensembl
Innerchr18:63212104..63212648hg38UCSC Ensembl
Outerchr18:63212089..63212663hg38UCSC Ensembl
chr18:60879329..60879888hg19UCSC Ensembl
Innerchr18:60879337..60879881hg19UCSC Ensembl
Outerchr18:60879322..60879896hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38560
hg19560
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15904091, essv15904108, essv15904098, essv15904106, essv15904110, essv15904099, essv15904097, essv15904111, essv15904105, essv15904089, essv15904102, essv15904095, essv15904112, essv15904107, essv15904088, essv15904096, essv15904093, essv15904100, essv15904101, essv15904094, essv15904109, essv15904103, essv15904092, essv15904104, essv15904090
SamplesHG01790, HG01675, NA20809, HG01302, HG00328, HG02014, NA07051, HG01682, HG01140, NA12282, HG00259, HG01122, HG00141, NA11933, HG00282, HG01676, HG01070, HG01341, HG00109, NA20581, HG01393, NA20543, HG01119, HG00641, HG01678
Known GenesBCL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642764
Frequency
Sample Size2504
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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