A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761538



Internal ID10028891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:83786100..83837028hg38UCSC Ensembl
Innerchr9:86401015..86451943hg19UCSC Ensembl
Innerchr9:85590835..85641763hg18UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg3850929
hg1950929
hg1850929
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6994325
SamplesSW_0019
Known GenesGKAP1, KIF27
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)esv2761538
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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