A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761643



Internal ID10028993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:1575016..1713002hg38UCSC Ensembl
Innerchr11:1596246..1734232hg19UCSC Ensembl
Innerchr11:1552822..1690808hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38137987
hg19137987
hg18137987
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995285
SamplesSW_1229
Known GenesFAM99A, FAM99B, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, MOB2
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)esv2761643
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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