A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4171n100



Internal ID22790258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214593909..214636431hg38UCSC Ensembl
chr2:215458633..215501155hg19UCSC Ensembl
chr2:215166878..215209400hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3842523
hg1942523
hg1842523
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011635, nsv998532
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)dgv4171n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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