A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760862



Internal ID10377169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:56677017..56678865hg38UCSC Ensembl
Innerchr4:57543183..57545031hg19UCSC Ensembl
Innerchr4:57237940..57239788hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381849
hg191849
hg181849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7010886, essv7010897, essv7010895, essv7010892, essv7010888, essv7010898, essv7010883, essv7010894, essv7010890, essv7010891, essv7010885, essv7010884, essv7010896, essv7010887, essv7010893
SamplesRW_0203, RW_0526, RW_0039, RW_0196, RW_0017, RW_0224, RW_0065, RW_0302, RW_0515, RW_0048, RW_0579, RW_0183, RW_0191, RW_0184, RW_0060
Known GenesHOPX
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)esv2760862
Frequency
Sample Size1109
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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