A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7n100



Internal ID20151623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1306835..1379057hg38UCSC Ensembl
chr1:1242215..1314437hg19UCSC Ensembl
chr1:1232078..1304300hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3872223
hg1972223
hg1872223
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1008000, nsv998999
Samples
Known GenesACAP3, AURKAIP1, CPSF3L, DVL1, GLTPD1, MIR6727, MIR6808, MXRA8, PUSL1, TAS1R3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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