A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758137



Internal ID9633596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142434958..143027060hg38UCSC Ensembl
Innerchr7:141803423..142434269hg18UCSC Ensembl
Innerchr7:141610138..142240984hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38592103
hg18630847
hg17630847
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759569
Supporting Variantsessv21074, essv3202, essv4804, essv10667, essv1453, essv655, essv4285, essv5901, essv6123, essv436, essv7156, essv5578, essv1997, essv7373, essv542, essv6924, essv18606, essv4089, essv7138, essv24694, essv23004, essv4410, essv6331, essv1390, essv1933, essv1520, essv4683, essv4571
SamplesNA18998, NA11829, NA18524, NA18980, NA18855, NA18603, NA18959, NA18944, NA18550, NA12812, NA18635, NA18547, NA18949, NA18975, NA19007, NA18605, NA18529, NA12234, NA18537, NA18573, NA18532, NA18974, NA06991, NA18952, NA18609, NA18623, NA18622, NA18620
Known GenesC7orf34, EPHB6, KEL, MTRNR2L6, OR9A2, PRSS1, PRSS2, PRSS3P2, TRPV5, TRPV6
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)esv2758137
Frequency
Sample Size270
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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