A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344372



Internal ID15191356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56191924..56191943hg38UCSC Ensembl
Innerchr1:56191892..56191975hg38UCSC Ensembl
Outerchr1:56191873..56191994hg38UCSC Ensembl
chr1:56657596..56657615hg19UCSC Ensembl
Innerchr1:56657564..56657647hg19UCSC Ensembl
Outerchr1:56657545..56657666hg19UCSC Ensembl
chr1:56430184..56430203hg18UCSC Ensembl
Innerchr1:56430235..56430152hg18UCSC Ensembl
Outerchr1:56430133..56430254hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863700
SamplesNA18516
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344372
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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