A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760802



Internal ID10377109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:68671694..68700200hg38UCSC Ensembl
Innerchr3:68720845..68749351hg19UCSC Ensembl
Innerchr3:68803535..68832041hg18UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3828507
hg1928507
hg1828507
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv105e203
Supporting Variantsessv7009098, essv7009128, essv7009138, essv7009117, essv7009107, essv7009161, essv7009136, essv7009090, essv7009170, essv7009164, essv7009124, essv7009118, essv7009123, essv7009093, essv7009120, essv7009131, essv7009103, essv7009156, essv7009140, essv7009169, essv7009094, essv7009114, essv7009105, essv7009112, essv7009121, essv7009115, essv7009096, essv7009130, essv7009137, essv7009159, essv7009119, essv7009142, essv7009101, essv7009162, essv7009108, essv7009097, essv7009167, essv7009168, essv7009147, essv7009146, essv7009125, essv7009129, essv7009106, essv7009163, essv7009153, essv7009134, essv7009148, essv7009157, essv7009149, essv7009165, essv7009110, essv7009092, essv7009104, essv7009158, essv7009171, essv7009135, essv7009116, essv7009172, essv7009145, essv7009150, essv7009126, essv7009152, essv7009113, essv7009099, essv7009132, essv7009141, essv7009160, essv7009102, essv7009095, essv7009154, essv7009151, essv7009143, essv7009139, essv7009091, essv7009127, essv7009109
SamplesRW_0059, RW_0660, RW_0123, RW_0635, RW_0138, RW_0203, RW_0636, RW_0644, RW_0526, RW_0030, RW_0158, RW_0196, RW_0582, RW_0538, RW_0566, RW_0178, RW_0141, RW_0168, RW_0656, RW_0116, RW_0511, RW_0614, RW_0525, RW_0510, RW_0624, RW_0503, RW_0115, RW_0100, RW_0218, RW_0358, RW_0357, RW_0570, RW_0512, RW_0024, RW_0121, RW_0623, RW_0111, RW_0631, RW_0639, RW_0500, RW_0224, RW_0602, RW_0171, RW_0576, RW_0505, RW_0094, RW_0221, RW_0176, RW_0655, RW_0530, RW_0625, RW_0020, RW_0571, RW_0201, RW_0195, RW_0507, RW_0543, RW_0663, RW_0562, RW_0605, RW_0190, RW_0589, RW_0045, RW_0579, RW_0183, RW_0031, RW_0652, RW_0612, RW_0033, RW_0581, RW_0184, RW_0554, RW_0508, RW_0535, RW_0084, RW_0162
Known Genes
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)esv2760802
Frequency
Sample Size1109
Observed Gain25
Observed Loss51
Observed Complex0
Frequencyn/a


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