A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581515



Internal ID18709713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22582277..22586524hg38UCSC Ensembl
Innerchr15:23286572..23290819hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg384248
hg194248
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9808009, essv9807998, essv9808013, essv9808005, essv9808020, essv9807987, essv9807994, essv9808015, essv9807988, essv9808003, essv9808008, essv9808012, essv9807984, essv9807983, essv9807992, essv9807996, essv9808016, essv9808014, essv9808006, essv9807990, essv9808018, essv9808001, essv9808019, essv9807985, essv9808017, essv9807986, essv9808002, essv9807993, essv9808004, essv9807997, essv9807995, essv9807999, essv9807991, essv9808010, essv9808007
Samples400920MK, 401706BJ, 400359OR, 400908PJ, 400880TM, 400455SJ, 401503MJ, 400948EV, 401500OM, 401390DG, 400131CM, 400528LR, 402062KR, 401926MR, 401808PS, 400148MS, 400061DE, 401832MC, 400385LJ, 401870FB, 401589HP, 400783MJ, 400660GK, 400381CA, 400242TP, 401919MD, 402074RR, 401874DJ, 400444MM, 400158FB, 401054VM, 400106PC, 401254AE, 400942HR, 400923OA
Known GenesHERC2P2
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)esv3581515
Frequency
Sample Size873
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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