A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4071n100



Internal ID22790158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:129979730..130067873hg38UCSC Ensembl
chr2:130737303..130825446hg19UCSC Ensembl
chr2:130453773..130541916hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3888144
hg1988144
hg1888144
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010484, nsv1009419
Samples
Known GenesFAR2P1, RAB6C, RAB6C-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4071n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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