A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652082



Internal ID14754945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30732058..30732484hg38UCSC Ensembl
Innerchr1:30732058..30732484hg38UCSC Ensembl
Outerchr1:30731133..30732512hg38UCSC Ensembl
chr1:31204905..31205331hg19UCSC Ensembl
Innerchr1:31204905..31205331hg19UCSC Ensembl
Outerchr1:31203980..31205359hg19UCSC Ensembl
chr1:30977492..30977918hg18UCSC Ensembl
Innerchr1:30977492..30977918hg18UCSC Ensembl
Outerchr1:30976567..30977946hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38427
hg19427
hg18427
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3375939
Supporting Variants
SamplesNA19240
Known GenesLAPTM5
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652082
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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