A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761138



Internal ID10377445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:23089363..23104578hg38UCSC Ensembl
Innerchr7:23128982..23144197hg19UCSC Ensembl
Innerchr7:23095507..23110722hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3815216
hg1915216
hg1815216
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014536, essv7014538, essv7014537, essv7014533, essv7014535
SamplesRW_0179, RW_0216, RW_0666, RW_0250, RW_0190
Known GenesKLHL7-AS1
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)esv2761138
Frequency
Sample Size1109
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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