A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761566



Internal ID10028919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73526068..73589827hg38UCSC Ensembl
Innerchr14:73992772..74056531hg19UCSC Ensembl
Innerchr14:73062525..73126284hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3863760
hg1963760
hg1863760
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6998650, essv6998658, essv6998668, essv6998657, essv6998664, essv6998654, essv6998643, essv6998676, essv6998673, essv6998648, essv6998649, essv6998674, essv6998641, essv6998653, essv6998660, essv6998652, essv6998640, essv6998661, essv6998670, essv6998642, essv6998646, essv6998669, essv6998666, essv6998671, essv6998665, essv6998662, essv6998644, essv6998675, essv6998663, essv6998659, essv6998672, essv6998651, essv6998655, essv6998647
SamplesSW_1167, SW_1162, SW_0639, SW_1377, SW_1570, SW_0803, SW_1170, SW_1095, SW_0606, SW_1102, SW_0121, SW_1021, SW_0624, SW_1081, SW_0099, SW_0701, SW_1424, SW_0007, SW_1282, SW_0836, SW_1126, SW_1220, SW_0008, SW_1285, SW_1211, SW_1079, SW_0775, SW_0578, SW_0847, SW_0660, SW_1062, SW_0017, SW_0175, SW_0313
Known GenesACOT1, ACOT2, HEATR4
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)esv2761566
Frequency
Sample Size1109
Observed Gain14
Observed Loss20
Observed Complex0
Frequencyn/a


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