A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761337



Internal ID10028699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:73727134..73775432hg38UCSC Ensembl
Innerchr7:73141464..73189762hg19UCSC Ensembl
Innerchr7:72779400..72827698hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3848299
hg1948299
hg1848299
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990892
SamplesSW_1188
Known GenesABHD11, CLDN3, LINC00035
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)esv2761337
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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