A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763598



Internal ID10376278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:140647155..140741933hg38UCSC Ensembl
Innerchr6:140968292..141063070hg19UCSC Ensembl
Innerchr6:141009985..141104763hg18UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3894779
hg1994779
hg1894779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7033226
SamplesSW_0651
Known GenesMIR4465
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)esv2763598
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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