A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998112



Internal ID10366717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:63688075..63799095hg38UCSC Ensembl
Innerchr13:64262208..64373228hg19UCSC Ensembl
Innerchr13:63160209..63271229hg18UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg38111021
hg19111021
hg18111021
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761233
Supporting Variants
SamplesSW_1193
Known GenesLINC00395, OR7E156P
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)essv6998112
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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