A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761855



Internal ID10374653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:23806894..23822448hg38UCSC Ensembl
Innerchr15:24052041..24067595hg19UCSC Ensembl
Innerchr15:21603134..21618688hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3815555
hg1915555
hg1815555
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv41e203
Supporting Variantsessv6999638, essv6999653, essv6999650, essv6999642, essv6999636, essv6999648, essv6999652, essv6999651, essv6999643, essv6999640, essv6999637, essv6999646, essv6999641, essv6999647, essv6999639, essv6999649, essv6999644
SamplesSW_1242, SW_1080, SW_0202, SW_1397, SW_1065, SW_0116, SW_0525, SW_1477, SW_1190, SW_1040, SW_0271, SW_1194, SW_0165, SW_1318, SW_1068, SW_0586, SW_0239
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)esv2761855
Frequency
Sample Size1109
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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