A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4176n100



Internal ID22790263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:220175425..220202970hg38UCSC Ensembl
chr2:221040146..221067691hg19UCSC Ensembl
chr2:220748390..220775935hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3827546
hg1927546
hg1827546
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1004997, nsv1008992, nsv1000646
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)dgv4176n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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