A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592838



Internal ID6980165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148246870..148258746hg38UCSC Ensembl
chr2:149004439..149016315hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3811877
hg1911877
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv743e214
Supporting Variantsessv10708098
SamplesHG03593
Known GenesMBD5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592838
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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