A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv51n100



Internal ID19010419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16544771..16788205hg38UCSC Ensembl
chr1:16871266..17114700hg19UCSC Ensembl
chr1:16743853..16987287hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38243435
hg19243435
hg18243435
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011045, nsv1013819, nsv1000693, nsv1009098, nsv1001344
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)dgv51n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer