A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3387349



Internal ID15234318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:163119050..163119069hg38UCSC Ensembl
Innerchr1:163119046..163119073hg38UCSC Ensembl
Outerchr1:163119027..163119092hg38UCSC Ensembl
chr1:163088840..163088859hg19UCSC Ensembl
Innerchr1:163088836..163088863hg19UCSC Ensembl
Outerchr1:163088817..163088882hg19UCSC Ensembl
chr1:161355464..161355483hg18UCSC Ensembl
Innerchr1:161355487..161355460hg18UCSC Ensembl
Outerchr1:161355441..161355506hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9596501
SamplesNA11894
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3387349
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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