A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310487



Internal ID15157438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:61393194..61393211hg38UCSC Ensembl
Outerchr1:61393194..61393211hg38UCSC Ensembl
Innerchr1:61858866..61858883hg19UCSC Ensembl
Outerchr1:61858866..61858883hg19UCSC Ensembl
Innerchr1:61631471..61631454hg18UCSC Ensembl
Outerchr1:61631454..61631471hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38975
hg19975
hg18975
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843573
SamplesNA19240
Known GenesNFIA
MethodSequencing
AnalysisNovelSeq
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310487
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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