A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3444386



Internal ID14944653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16569870..16650068hg38UCSC Ensembl
Innerchr1:16570870..16649068hg38UCSC Ensembl
Outerchr1:16568870..16651068hg38UCSC Ensembl
chr1:16896365..16976563hg19UCSC Ensembl
Innerchr1:16897365..16975563hg19UCSC Ensembl
Outerchr1:16895365..16977563hg19UCSC Ensembl
chr1:16768952..16849150hg18UCSC Ensembl
Innerchr1:16769952..16848150hg18UCSC Ensembl
Outerchr1:16767952..16850150hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3880199
hg1980199
hg1880199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692035
SamplesNA19240
Known GenesCROCCP2, MST1P2, NBPF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3444386
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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