A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6996098



Internal ID10024743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:71588129..71908877hg38UCSC Ensembl
Innerchr11:71299175..71619923hg19UCSC Ensembl
Innerchr11:70976823..71297571hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38320749
hg19320749
hg18320749
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761682
Supporting Variants
SamplesSW_1404
Known GenesALG1L9P, DEFB108B, FAM86C1, LOC100129216, LOC100133315, ZNF705E
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)essv6996098
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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