A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757738



Internal ID9979815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:82862879..83542628hg38UCSC Ensembl
Innerchr1:83328562..84008311hg19UCSC Ensembl
Innerchr1:83101150..83780899hg18UCSC Ensembl
Innerchr1:83040583..83720332hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38679750
hg19679750
hg18679750
hg17679750
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758947
Supporting Variantsessv9062, essv24791, essv3880, essv24568, essv14706, essv23337, essv15760, essv13028, essv14435, essv9795, essv18979, essv15361, essv12326, essv16349, essv13524, essv10204, essv16243, essv14544, essv6899
SamplesNA18862, NA12750, NA19201, NA19131, NA11992, NA19138, NA12005, NA19159, NA18605, NA19152, NA19161, NA18859, NA19202, NA19160, NA19132, NA18863, NA19193, NA18994, NA10860
Known Genes
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)esv2757738
Frequency
Sample Size270
Observed Gain16
Observed Loss3
Observed Complex0
Frequencyn/a


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