A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4047n100



Internal ID20155663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110308696..112358403hg38UCSC Ensembl
chr2:111066273..113115980hg19UCSC Ensembl
chr2:110500766..112832451hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg382049708
hg192049708
hg182331686
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007475, nsv1009609
Samples
Known GenesACOXL, ANAPC1, BCL2L11, BUB1, FBLN7, LIMS3, LIMS3L, LIMS3-LOC440895, LINC01106, LINC01123, LOC100288570, LOC440895, MERTK, MIR4435-1, MIR4435-1HG, MIR4435-2, MIR4771-1, MIR4771-2, RGPD5, RGPD6, RGPD8, TMEM87B, ZC3H6, ZC3H8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4047n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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