A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760985



Internal ID10377292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176033084..176256449hg38UCSC Ensembl
Innerchr5:175460087..175683452hg19UCSC Ensembl
Innerchr5:175392693..175616058hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38223366
hg19223366
hg18223366
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7013391, essv7013375, essv7013379, essv7013383, essv7013393, essv7013387, essv7013382, essv7013380, essv7013376, essv7013388, essv7013381, essv7013392, essv7013385, essv7013384, essv7013394, essv7013386, essv7013377, essv7013390
SamplesRW_0059, RW_0330, RW_0217, RW_0315, RW_0113, RW_0519, RW_0639, RW_0568, RW_0065, RW_0619, RW_0552, RW_0326, RW_0238, RW_0183, RW_0028, RW_0191, RW_0594, RW_0213
Known GenesFAM153B, LOC100507387, LOC100996385, LOC643201, SIMC1
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2760985
Frequency
Sample Size1109
Observed Gain10
Observed Loss8
Observed Complex0
Frequencyn/a


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