A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4187n100



Internal ID20155803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232377635..232429517hg38UCSC Ensembl
chr2:233242345..233294227hg19UCSC Ensembl
chr2:232950589..233002471hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3851883
hg1951883
hg1851883
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007507, nsv1012725
Samples
Known GenesALPP, ALPPL2, ECEL1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4187n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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