A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv217n21



Internal ID20131938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45463176..45595884hg38UCSC Ensembl
chr2:45690315..45823023hg19UCSC Ensembl
chr2:45543819..45676527hg18UCSC Ensembl
chr2:45601966..45734674hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38132709
hg19132709
hg18132709
hg17132709
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv524130, nsv526369
Samples
Known GenesSRBD1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)dgv217n21
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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