A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581598



Internal ID18709796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:26909620..26912193hg38UCSC Ensembl
Innerchr15:27154767..27157340hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg382574
hg192574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv724e212
Supporting Variantsessv9808228, essv9808263, essv9808229, essv9808246, essv9808284, essv9808238, essv9808227, essv9808250, essv9808275, essv9808261, essv9808281, essv9808257, essv9808232, essv9808272, essv9808280, essv9808226, essv9808278, essv9808282, essv9808248, essv9808235, essv9808242, essv9808259, essv9808262, essv9808270, essv9808234, essv9808269, essv9808241, essv9808230, essv9808247, essv9808239, essv9808265, essv9808245, essv9808273, essv9808274, essv9808256, essv9808240, essv9808264, essv9808254, essv9808253, essv9808252, essv9808225, essv9808260, essv9808249, essv9808243, essv9808224, essv9808279, essv9808276, essv9808231, essv9808271, essv9808236, essv9808283, essv9808258, essv9808267, essv9808237, essv9808251, essv9808268
Samples400308SP, 400599CP, 401366WD, 400984LD, 401005BL, 400455SJ, 400917CG, 400313DF, 400101EH, 400512LR, 401074CM, 400622SJ, 400272AE, 401899MB, 401434VN, 400051MR, 400134WK, 400061DE, 401401BA, 400033KC, 401155ML, 401831TW, 400333CC, 400579HJ, 400107MJ, 400218WK, 400763BT, 400870KC, 402033WD, 400702PA, 401863BD, 400064WJ, 400240HJ, 401454CD, 401859GS, 401943KA, 400686BM, 401478RD, 400603CJ, 400450FG, 401203MP, 400483DP, 401608GE, 401315HK, 401277RA, 401693RC, 401010HT, 401894PD, 401786WD, 400859SC, 400072GR, 401567BD, 401040KM, 400661AD, 400540BM, 401395OP
Known GenesGABRA5
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)esv3581598
Frequency
Sample Size873
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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