A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10463n54



Internal ID19002639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31817661..32683279hg38UCSC Ensembl
chr6:31785438..32651056hg19UCSC Ensembl
chr6:31893417..32759034hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38865619
hg19865619
hg18865618
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv602018, nsv602086, nsv601975, nsv601977, nsv602053, nsv602052, nsv601984, nsv602029, nsv601999, nsv602016, nsv602000, nsv601950, nsv601983, nsv602015, nsv602035, nsv601982, nsv602017, nsv601951, nsv601976, nsv601961, nsv601972, nsv601980, nsv601956, nsv601955, nsv602036
Samples
Known GenesAGER, AGPAT1, ATF6B, BTNL2, C2, C4A, C4B, C4B_2, C6orf10, C6orf48, CFB, CYP21A1P, CYP21A2, DXO, EGFL8, EHMT2, FKBPL, GPSM3, HCG23, HLA-DQA1, HLA-DQB1, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-DRB6, HSPA1A, HSPA1B, LOC100507547, LOC102060414, MIR1236, MIR6721, MIR6833, NELFE, NEU1, NOTCH4, PBX2, PPT2, PPT2-EGFL8, PRRT1, RNF5, RNF5P1, SKIV2L, SLC44A4, SNORD48, SNORD52, STK19, TNXA, TNXB, ZBTB12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10463n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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