A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760983



Internal ID10028345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180932076..181006264hg38UCSC Ensembl
Innerchr5:180359076..180433264hg19UCSC Ensembl
Innerchr5:180291682..180365870hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3874189
hg1974189
hg1874189
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7013459, essv7013428, essv7013453, essv7013430, essv7013457, essv7013451, essv7013479, essv7013460, essv7013446, essv7013431, essv7013425, essv7013447, essv7013475, essv7013438, essv7013435, essv7013485, essv7013424, essv7013452, essv7013439, essv7013437, essv7013444, essv7013470, essv7013427, essv7013461, essv7013486, essv7013465, essv7013429, essv7013463, essv7013462, essv7013468, essv7013454, essv7013422, essv7013487, essv7013458, essv7013464, essv7013482, essv7013480, essv7013472, essv7013442, essv7013421, essv7013441, essv7013483, essv7013448, essv7013471, essv7013473, essv7013474, essv7013477, essv7013466, essv7013440, essv7013433, essv7013432, essv7013484, essv7013481, essv7013450, essv7013436, essv7013426, essv7013476, essv7013449, essv7013443, essv7013469, essv7013455
SamplesRW_0300, RW_0087, RW_0636, RW_0644, RW_0553, RW_0520, RW_0345, RW_0007, RW_0566, RW_0606, RW_0006, RW_0322, RW_0146, RW_0226, RW_0192, RW_0116, RW_0179, RW_0017, RW_0112, RW_0293, RW_0111, RW_0639, RW_0540, RW_0659, RW_0500, RW_0224, RW_0103, RW_0061, RW_0221, RW_0311, RW_0177, RW_0091, RW_0129, RW_0252, RW_0210, RW_0092, RW_0333, RW_0008, RW_0193, RW_0578, RW_0667, RW_0316, RW_0195, RW_0120, RW_0166, RW_0513, RW_0048, RW_0232, RW_0632, RW_0621, RW_0149, RW_0124, RW_0070, RW_0028, RW_0652, RW_0110, RW_0234, RW_0018, RW_0207, RW_0107, RW_0336
Known GenesBTNL3, BTNL8
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)esv2760983
Frequency
Sample Size1109
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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