A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7027924



Internal ID10018280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59538932..59580430hg38UCSC Ensembl
Innerchr1:60004604..60046102hg19UCSC Ensembl
Innerchr1:59777192..59818690hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3841499
hg1941499
hg1841499
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763521
Supporting Variants
SamplesSW_1121
Known GenesFGGY
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)essv7027924
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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