A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763688



Internal ID10376368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13053568..13968218hg38UCSC Ensembl
Innerchr21:14425889..15340539hg19UCSC Ensembl
Innerchr21:13347760..14262410hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38914651
hg19914651
hg18914651
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv93e203
Supporting Variantsessv7004268, essv7004273, essv7004281, essv7004285, essv7004275, essv7004269, essv7004271, essv7004284, essv7004277, essv7004274, essv7004282, essv7004270, essv7004280, essv7004276, essv7004283, essv7004272, essv7004279
SamplesSW_0832, SW_1375, SW_1115, SW_1168, SW_1105, SW_0581, SW_1351, SW_0351, SW_0785, SW_0758, SW_1190, SW_1452, SW_1472, SW_0524, SW_1279, SW_1026
Known GenesANKRD20A11P, ANKRD30BP2, C21orf15, LOC100288966, MIR3156-3, MIR8069, POTED
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)esv2763688
Frequency
Sample Size1109
Observed Gain3
Observed Loss13
Observed Complex0
Frequencyn/a


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