A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3914n100



Internal ID22790001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:88824623..90282526hg38UCSC Ensembl
chr2:89124136..90321385hg19UCSC Ensembl
chr2:88905251..89958690hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381457904
hg191197250
hg181053440
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1002633, nsv1001448, nsv1000009, nsv1011188, nsv1000987
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3914n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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