A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2760467

Internal ID10027830
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36108119..36265379hg38UCSC Ensembl
Innerchr17:34435512..34629696hg19UCSC Ensembl
Innerchr17:31459625..31653809hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7024322, essv7024306, essv7024330, essv7024319, essv7024371, essv7024372, essv7024384, essv7024354, essv7024379, essv7024326, essv7024303, essv7024316, essv7024324, essv7024302, essv7024304, essv7024318, essv7024335, essv7024342, essv7024313, essv7024314, essv7024361, essv7024320, essv7024358, essv7024390, essv7024381, essv7024333, essv7024350, essv7024338, essv7024347, essv7024311, essv7024346, essv7024299, essv7024363, essv7024375, essv7024332, essv7024369, essv7024336, essv7024357, essv7024305, essv7024307, essv7024317, essv7024364, essv7024329, essv7024373, essv7024343, essv7024337, essv7024388, essv7024309, essv7024321, essv7024340, essv7024382, essv7024339, essv7024325, essv7024349, essv7024386, essv7024355, essv7024352, essv7024308, essv7024359, essv7024387, essv7024315, essv7024366, essv7024368, essv7024344, essv7024374, essv7024360, essv7024376, essv7024365, essv7024353, essv7024383, essv7024370, essv7024331, essv7024341, essv7024377, essv7024380, essv7024348, essv7024385, essv7024327, essv7024328, essv7024351, essv7024362, essv7024310
SamplesRW_0281, RW_0030, RW_0503, RW_0559, RW_0357, RW_0126, RW_0284, RW_0129, RW_0587, RW_0185, RW_0502, RW_0108, RW_0613, RW_0548, RW_0222, RW_0103, RW_0585, RW_0570, RW_0134, RW_0154, RW_0619, RW_0289, RW_0655, RW_0111, RW_0196, RW_0201, RW_0543, RW_0578, RW_0541, RW_0014, RW_0346, RW_0031, RW_0611, RW_0664, RW_0551, RW_0059, RW_0223, RW_0341, RW_0087, RW_0508, RW_0250, RW_0041, RW_0217, RW_0275, RW_0643, RW_0121, RW_0314, RW_0632, RW_0574, RW_0637, RW_0307, RW_0609, RW_0216, RW_0306, RW_0358, RW_0064, RW_0560, RW_0564, RW_0132, RW_0241, RW_0149, RW_0233, RW_0568, RW_0533, RW_0137, RW_0321, RW_0602, RW_0124, RW_0139, RW_0114, RW_0203, RW_0512, RW_0591, RW_0554, RW_0594, RW_0096, RW_0328, RW_0229, RW_0622, RW_0190, RW_0330, RW_0202
Known GenesCCL3L1, CCL3L3, CCL4L1, CCL4L2, TBC1D3B, TBC1D3H
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.
Pubmed ID21179565
Accession Number(s)esv2760467
Sample Size1109
Observed Gain82
Observed Loss0
Observed Complex0

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