A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998966



Internal ID10026045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16542868..16788217hg38UCSC Ensembl
Innerchr1:16869363..17114712hg19UCSC Ensembl
Innerchr1:16741950..16987299hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38245350
hg19245350
hg18245350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763736
Supporting Variants
SamplesSW_1456
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, 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)essv6998966
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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