A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385432



Internal ID14885714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16531270..16661868hg38UCSC Ensembl
Innerchr1:16532270..16660868hg38UCSC Ensembl
Outerchr1:16530270..16662868hg38UCSC Ensembl
chr1:16857765..16988363hg19UCSC Ensembl
Innerchr1:16858765..16987363hg19UCSC Ensembl
Outerchr1:16856765..16989363hg19UCSC Ensembl
chr1:16730352..16860950hg18UCSC Ensembl
Innerchr1:16731352..16859950hg18UCSC Ensembl
Outerchr1:16729352..16861950hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38130599
hg19130599
hg18130599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv49e59
Supporting Variantsessv8692026
SamplesNA19239
Known GenesCROCCP2, MIR3675, MST1P2, NBPF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385432
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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