A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv52n100



Internal ID19010420
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 gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006241, nsv1003927, nsv1010821
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)dgv52n100
Frequency
Sample Size29084
Observed Gain12
Observed Loss4
Observed Complex0
Frequencyn/a


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