A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760369



Internal ID10376677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:85789733..85807277hg38UCSC Ensembl
Innerchr15:86332964..86350508hg19UCSC Ensembl
Innerchr15:84133968..84151512hg18UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg3817545
hg1917545
hg1817545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023504, essv7023486, essv7023506, essv7023484, essv7023494, essv7023483, essv7023500, essv7023496, essv7023493, essv7023503, essv7023481, essv7023491, essv7023485, essv7023492, essv7023487, essv7023480, essv7023505, essv7023497, essv7023489, essv7023498, essv7023495, essv7023482, essv7023490, essv7023501, essv7023502
SamplesRW_0069, RW_0305, RW_0010, RW_0345, RW_0093, RW_0566, RW_0146, RW_0297, RW_0658, RW_0315, RW_0112, RW_0293, RW_0558, RW_0114, RW_0221, RW_0608, RW_0002, RW_0515, RW_0578, RW_0080, RW_0663, RW_0190, RW_0238, RW_0183, RW_0554
Known GenesKLHL25
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)esv2760369
Frequency
Sample Size1109
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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