A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7021649



Internal ID10333607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:60622296..60628049hg38UCSC Ensembl
Innerchr13:61196430..61202183hg19UCSC Ensembl
Innerchr13:60094431..60100184hg18UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg385754
hg195754
hg185754
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760319
Supporting Variants
SamplesRW_0054
Known Genes
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)essv7021649
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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