A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7029670



Internal ID10006277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:71147556..71194502hg38UCSC Ensembl
Innerchr4:72013273..72060219hg19UCSC Ensembl
Innerchr4:72232137..72279083hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3846947
hg1946947
hg1846947
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763808
Supporting Variants
SamplesSW_0077
Known GenesSLC4A4
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)essv7029670
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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