A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764241



Internal ID10031591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15827002..15855150hg38UCSC Ensembl
Innerchr1:16153497..16181645hg19UCSC Ensembl
Innerchr1:16026084..16054232hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3828149
hg1928149
hg1828149
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7005030, essv7005029, essv7005024, essv7005026, essv7005027, essv7005025, essv7005028, essv7005023
SamplesRW_0325, RW_0131, RW_0570, RW_0273, RW_0028, RW_0098, RW_0058, RW_0136
Known GenesFLJ37453, SPEN
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)esv2764241
Frequency
Sample Size1109
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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