A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6994618



Internal ID10011498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:30034963..30042152hg38UCSC Ensembl
Innerchr10:30323892..30331081hg19UCSC Ensembl
Innerchr10:30363898..30371087hg18UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg387190
hg197190
hg187190
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761589
Supporting Variants
SamplesSW_0639
Known GenesKIAA1462
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)essv6994618
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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