A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005060



Internal ID9998199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16559640..16695774hg38UCSC Ensembl
Innerchr1:16886135..17022269hg19UCSC Ensembl
Innerchr1:16758722..16894856hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38136135
hg19136135
hg18136135
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764199
Supporting Variants
SamplesRW_0357
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1P2, 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)essv7005060
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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