A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645747



Internal ID6685808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:36907049..36911170hg38UCSC Ensembl
Innerchr20:36907049..36911170hg38UCSC Ensembl
Outerchr20:36906956..36911332hg38UCSC Ensembl
chr20:35535452..35539573hg19UCSC Ensembl
Innerchr20:35535452..35539573hg19UCSC Ensembl
Outerchr20:35535359..35539735hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg384122
hg194122
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16179880, essv16179882, essv16179878, essv16179881, essv16179883, essv16179884, essv16179879
SamplesHG03370, HG03437, NA19072, NA19834, NA19213, HG03511, HG01894
Known GenesSAMHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645747
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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