A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2180n100



Internal ID22788267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:19975692..20422227hg38UCSC Ensembl
chr15:20180945..20627480hg19UCSC Ensembl
chr15:18440959..18887494hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38446536
hg19446536
hg18446536
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1039286, nsv1054140, nsv1048244, nsv1046483, nsv1049884, nsv1037710, nsv1053556, nsv1042655, nsv1037014, nsv1054624, nsv1038787, nsv1046568, nsv1041852, nsv1047299, nsv1037918, nsv1035775, nsv1048825, nsv1044314, nsv1049847, nsv1046440, nsv1053961, nsv1039235, nsv1044933, nsv1054256, nsv1051616, nsv1049156, nsv1045779
Samples
Known GenesCHEK2P2, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2180n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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