A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4186n100



Internal ID20155802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232377635..232409435hg38UCSC Ensembl
chr2:233242345..233274145hg19UCSC Ensembl
chr2:232950589..232982389hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3831801
hg1931801
hg1831801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1008921, nsv1006055, nsv1001723, nsv1008008
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)dgv4186n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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