A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1843e212



Internal ID20150299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:152020400..152049113hg38UCSC Ensembl
chr6:152341535..152370248hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3828714
hg1928714
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3571482, esv3571479, esv3571481, esv3571480, esv3571474, esv3571475, esv3571478
Samples401806DL, 400471YS, 401619BT, 402009WP, 400107MJ, 400622SJ, 400688FL, 401841OB, 400705KK, 400837HN, 400371GA, 401943KA, 400291VJ, 400203NA, 401307VR, 400579HJ, 401442WR, 401609MB, 400354TJ, 400598DA, 401419SW, 400377WJ, 400307HW, 400410CD, 401259LS, 400152MR, 400040CN, 401732HW, 401458RT, 400859SC, 400655WB, 400361HC, 401730MS, 400109LJ, 401817MC, 400442FE, 401133JG, 400783MJ, 401778CB, 400221VM, 401831TW, 400791GC, 400468OB, 401460LW, 400509CJ, 400844GP, 400201PK
Known GenesESR1
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)dgv1843e212
Frequency
Sample Size873
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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