A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677733



Internal ID9597152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:36894399..36896140hg38UCSC Ensembl
chr20:35522802..35524543hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg381742
hg191742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6084861, essv5956787, essv5819923, essv6417560, essv6023372, essv6007591, essv5506378, essv6389067, essv6584146, essv6489398
SamplesNA12718, HG00111, NA12383, NA20541, NA11995, NA12777, HG00114, NA20760, NA12272, NA12775
Known GenesSAMHD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677733
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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