A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2232n100



Internal ID22788319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20283071..21096875hg38UCSC Ensembl
chr15:20488324..21302204hg19UCSC Ensembl
chr15:18748338..19566863hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38813805
hg19813881
hg18818526
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1047335, nsv1042876, nsv1036759, nsv1043137, nsv1036686, nsv1037578, nsv1049064, nsv1049697, nsv1050371, nsv1037004, nsv1047907, nsv1049399, nsv1044514, nsv1040035, nsv1054873, nsv1037313, nsv1055062, nsv1045094, nsv1047738, nsv1040868, nsv1053491, nsv1053081, nsv1047154, nsv1050046
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2232n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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