A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760214



Internal ID10376522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18917623..18955273hg38UCSC Ensembl
Innerchr11:18939170..18976820hg19UCSC Ensembl
Innerchr11:18895746..18933396hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3837651
hg1937651
hg1837651
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv19e203
Supporting Variantsessv7019491, essv7019524, essv7019498, essv7019434, essv7019419, essv7019468, essv7019505, essv7019520, essv7019437, essv7019442, essv7019490, essv7019425, essv7019429, essv7019495, essv7019509, essv7019525, essv7019449, essv7019497, essv7019465, essv7019436, essv7019476, essv7019420, essv7019480, essv7019478, essv7019423, essv7019447, essv7019512, essv7019528, essv7019486, essv7019529, essv7019438, essv7019511, essv7019428, essv7019459, essv7019463, essv7019518, essv7019503, essv7019493, essv7019474, essv7019527, essv7019492, essv7019432, essv7019482, essv7019494, essv7019453, essv7019519, essv7019514, essv7019523, essv7019516, essv7019458, essv7019504, essv7019471, essv7019448, essv7019531, essv7019435, essv7019489, essv7019446, essv7019464, essv7019508, essv7019530, essv7019470, essv7019460, essv7019445, essv7019481, essv7019441, essv7019526, essv7019439, essv7019500, essv7019426, essv7019479, essv7019421, essv7019443, essv7019454, essv7019461, essv7019472, essv7019456, essv7019483, essv7019507, essv7019487, essv7019475, essv7019501, essv7019513, essv7019515, essv7019506, essv7019496, essv7019473, essv7019467, essv7019424, essv7019532, essv7019457, essv7019440, essv7019427, essv7019484, essv7019452, essv7019431, essv7019502, essv7019517, essv7019469, essv7019430, essv7019451, essv7019485, essv7019462, essv7019450
SamplesRW_0047, RW_0208, RW_0620, RW_0274, RW_0169, RW_0059, RW_0635, RW_0348, RW_0292, RW_0526, RW_0329, RW_0105, RW_0058, RW_0099, RW_0075, RW_0262, RW_0090, RW_0104, RW_0270, RW_0650, RW_0006, RW_0146, RW_0189, RW_0025, RW_0586, RW_0217, RW_0511, RW_0614, RW_0615, RW_0216, RW_0113, RW_0357, RW_0131, RW_0112, RW_0512, RW_0074, RW_0161, RW_0233, RW_0616, RW_0230, RW_0111, RW_0522, RW_0519, RW_0272, RW_0540, RW_0147, RW_0545, RW_0004, RW_0643, RW_0608, RW_0618, RW_0176, RW_0346, RW_0655, RW_0077, RW_0296, RW_0211, RW_0177, RW_0043, RW_0250, RW_0664, RW_0625, RW_0597, RW_0281, RW_0534, RW_0212, RW_0333, RW_0201, RW_0193, RW_0231, RW_0120, RW_0145, RW_0513, RW_0278, RW_0507, RW_0605, RW_0186, RW_0232, RW_0117, RW_0229, RW_0215, RW_0238, RW_0154, RW_0277, RW_0070, RW_0518, RW_0306, RW_0038, RW_0665, RW_0652, RW_0612, RW_0263, RW_0156, RW_0144, RW_0184, RW_0351, RW_0072, RW_0167, RW_0554, RW_0573, RW_0060, RW_0034, RW_0594
Known GenesMRGPRX1
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)esv2760214
Frequency
Sample Size1109
Observed Gain77
Observed Loss26
Observed Complex0
Frequencyn/a


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