A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4035n100



Internal ID20155651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:107924531..108493578hg38UCSC Ensembl
chr2:108540987..109110034hg19UCSC Ensembl
chr2:107907419..108476466hg18UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38569048
hg19569048
hg18569048
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1009244, nsv1004216
Samples
Known GenesGCC2, SLC5A7, SULT1C2, SULT1C2P1, SULT1C3, SULT1C4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4035n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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