A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv72n100



Internal ID19010440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16627264..16721972hg38UCSC Ensembl
chr1:16953759..17048467hg19UCSC Ensembl
chr1:16826346..16921054hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3894709
hg1994709
hg1894709
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1002033, nsv1015120, nsv1003822, nsv999674
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv72n100
Frequency
Sample Size29084
Observed Gain13
Observed Loss5
Observed Complex0
Frequencyn/a


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