A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592842



Internal ID6980169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148317808..148322696hg38UCSC Ensembl
chr2:149075377..149080265hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg384889
hg194889
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10708105, essv10708103, essv10708104, essv10708106
SamplesNA11995, HG04183, HG03823, HG02861
Known GenesMBD5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592842
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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