A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv53n100



Internal ID19010421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16544771..16851458hg38UCSC Ensembl
chr1:16871266..17177953hg19UCSC Ensembl
chr1:16743853..17050540hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38306688
hg19306688
hg18306688
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998951, nsv1010634, nsv1007622, nsv999991
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)dgv53n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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