A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4064n100



Internal ID20155680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127036712..127104681hg38UCSC Ensembl
chr2:127794288..127862257hg19UCSC Ensembl
chr2:127510758..127578727hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3867970
hg1967970
hg1867970
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003730, nsv1003461, nsv997855, nsv1001673, nsv1003887, nsv1002673, nsv1010577, nsv1002124, nsv1009309, nsv1000994, nsv1014290, nsv1011224, nsv1010084
Samples
Known GenesBIN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4064n100
Frequency
Sample Size29084
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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