A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv42n100



Internal ID20151658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16502007..16898718hg38UCSC Ensembl
chr1:16828502..17225213hg19UCSC Ensembl
chr1:16701089..17097800hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38396712
hg19396712
hg18396712
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1008791, nsv1012439, nsv1005499
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv42n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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