A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757819



Internal ID9633278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:96905372..97720044hg38UCSC Ensembl
Innerchr2:97571109..98336507hg19UCSC Ensembl
Innerchr2:96934836..97702939hg18UCSC Ensembl
Innerchr2:96992983..97795025hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38814673
hg19765399
hg18768104
hg17802043
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759077
Supporting Variantsessv7611, essv24225, essv24429, essv23345, essv10696, essv5380, essv251, essv24991, essv18990, essv14455
SamplesNA18855, NA18545, NA12750, NA18563, NA19201, NA12005, NA10839, NA18948, NA12707, NA10856
Known GenesACTR1B, ANKRD36, ANKRD36B, COX5B, FAHD2B, FAM178B, LINC01125, LOC100506076, LOC100506123, ZAP70
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)esv2757819
Frequency
Sample Size270
Observed Gain2
Observed Loss8
Observed Complex0
Frequencyn/a


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