A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759415



Internal ID9634874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31903735..32241336hg38UCSC Ensembl
Innerchr6:31871512..32209113hg19UCSC Ensembl
Innerchr6:31979491..32317091hg18UCSC Ensembl
Innerchr6:31979491..32317091hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38337602
hg19337602
hg18337601
hg17337601
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758043
SamplesNA10831, NA12154, NA18863, NA18861, NA19192, NA18523, NA07056, NA18542, NA07019, NA18855, NA19210, NA10855, NA18505, NA18949, NA18967, NA07357, NA18856, NA18593, NA19153, NA18537, NA19129, NA19103, NA19102, NA18558, NA19154, NA19159, NA19141, NA11832, NA19101, NA06991, NA19128, NA10830, NA12003, NA19202, NA18980
Known GenesAGER, AGPAT1, ATF6B, C2, C4A, C4B, C4B_2, CFB, CYP21A1P, CYP21A2, DXO, EGFL8, FKBPL, GPSM3, LOC100507547, LOC102060414, MIR1236, MIR6721, MIR6833, NELFE, NOTCH4, PBX2, PPT2, PPT2-EGFL8, PRRT1, RNF5, RNF5P1, SKIV2L, STK19, TNXA, TNXB
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2759415
Frequency
Sample Size270
Observed Gain4
Observed Loss31
Observed Complex0
Frequencyn/a


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