A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645746



Internal ID6685807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:36894398..36896144hg38UCSC Ensembl
Innerchr20:36894403..36896139hg38UCSC Ensembl
Outerchr20:36894393..36896149hg38UCSC Ensembl
chr20:35522801..35524547hg19UCSC Ensembl
Innerchr20:35522806..35524542hg19UCSC Ensembl
Outerchr20:35522796..35524552hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg381747
hg191747
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16179873, essv16179866, essv16179870, essv16179877, essv16179865, essv16179875, essv16179869, essv16179863, essv16179867, essv16179871, essv16179872, essv16179862, essv16179864, essv16179868, essv16179876, essv16179861, essv16179874
SamplesNA12718, HG02108, NA12005, HG00111, NA12383, HG01495, HG02658, HG00121, NA20541, NA11995, NA12777, HG00114, NA20760, NA12272, HG01626, HG01619, NA12775
Known GenesSAMHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645746
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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