A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761176



Internal ID10377483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:31957787..31965910hg38UCSC Ensembl
Innerchr13:32531924..32540047hg19UCSC Ensembl
Innerchr13:31429924..31438047hg18UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg388124
hg198124
hg188124
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv30e203
Supporting Variantsessv6997797, essv6997821, essv6997814, essv6997836, essv6997803, essv6997816, essv6997845, essv6997830, essv6997798, essv6997829, essv6997837, essv6997826, essv6997825, essv6997831, essv6997807, essv6997819, essv6997817, essv6997828, essv6997815, essv6997810, essv6997809, essv6997799, essv6997843, essv6997808, essv6997805, essv6997840, essv6997818, essv6997812, essv6997832, essv6997806, essv6997841, essv6997813, essv6997820, essv6997838, essv6997804, essv6997839, essv6997835, essv6997824, essv6997801, essv6997834, essv6997823, essv6997802, essv6997842, essv6997827
SamplesSW_1224, SW_0638, SW_1242, SW_0285, SW_1192, SW_0142, SW_1115, SW_1118, SW_1143, SW_0639, SW_1246, SW_0801, SW_0046, SW_0115, SW_0191, SW_1294, SW_0660, SW_0691, SW_0815, SW_0816, SW_0759, SW_0869, SW_1285, SW_0351, SW_1055, SW_0525, SW_0077, SW_1165, SW_1149, SW_1130, SW_1075, SW_0271, SW_0590, SW_0843, SW_0871, SW_1101, SW_0524, SW_0791, SW_0579, SW_0586, SW_0009, SW_0338, SW_1003, SW_0675
Known GenesEEF1DP3
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)esv2761176
Frequency
Sample Size1109
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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