A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv70n100



Internal ID19010438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16617106..16788205hg38UCSC Ensembl
chr1:16943601..17114700hg19UCSC Ensembl
chr1:16816188..16987287hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38171100
hg19171100
hg18171100
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1012231, nsv1011567, nsv1001392, nsv1002493
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv70n100
Frequency
Sample Size29084
Observed Gain7
Observed Loss8
Observed Complex0
Frequencyn/a


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