A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761233



Internal ID10377540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:63680723..63831189hg38UCSC Ensembl
Innerchr13:64254856..64405322hg19UCSC Ensembl
Innerchr13:63152857..63303323hg18UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg38150467
hg19150467
hg18150467
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6998121, essv6998108, essv6998117, essv6998113, essv6998115, essv6998118, essv6998112, essv6998120, essv6998110, essv6998114, essv6998109, essv6998119, essv6998107, essv6998116
SamplesSW_1439, SW_1407, SW_1348, SW_0033, SW_1413, SW_1126, SW_1057, SW_1485, SW_0044, SW_0183, SW_1140, SW_1089, SW_1193, SW_0254
Known GenesLINC00395, OR7E156P
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)esv2761233
Frequency
Sample Size1109
Observed Gain8
Observed Loss6
Observed Complex0
Frequencyn/a


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