A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764061



Internal ID10031411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72932556..73288160hg38UCSC Ensembl
Innerchr7:72403094..72702162hg19UCSC Ensembl
Innerchr7:72041030..72340098hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38355605
hg19299069
hg18299069
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990889, essv6990891
SamplesSW_0269, SW_0029
Known GenesGTF2IP1, LOC100093631, LOC100101148, LOC541473, NCF1B, NSUN5P2, PMS2L2, PMS2P5, POM121, SPDYE8P, STAG3L1, STAG3L3, TRIM73, TRIM74
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)esv2764061
Frequency
Sample Size1109
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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