A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005042



Internal ID9997448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16542868..16619084hg38UCSC Ensembl
Innerchr1:16869363..16945579hg19UCSC Ensembl
Innerchr1:16741950..16818166hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3876217
hg1976217
hg1876217
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764199
Supporting Variants
SamplesRW_0327
Known GenesCROCCP2, MIR3675, NBPF1
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)essv7005042
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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