A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3996n100



Internal ID22790083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:91460974..91844970hg38UCSC Ensembl
chr2:91653350..92032996hg19UCSC Ensembl
chr2:91017077..91396723hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38383997
hg19379647
hg18379647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1002003, nsv1009847
Samples
Known GenesGGT8P, LOC654342
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3996n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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