A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3447080



Internal ID14947344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:60678898..60678917hg38UCSC Ensembl
Innerchr1:60678894..60678921hg38UCSC Ensembl
Outerchr1:60678875..60678940hg38UCSC Ensembl
chr1:61144570..61144589hg19UCSC Ensembl
Innerchr1:61144566..61144593hg19UCSC Ensembl
Outerchr1:61144547..61144612hg19UCSC Ensembl
chr1:60917158..60917177hg18UCSC Ensembl
Innerchr1:60917181..60917154hg18UCSC Ensembl
Outerchr1:60917135..60917200hg18UCSC Ensembl
Cytoband1p31.3
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 Variantsessv9594458
SamplesNA19141
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3447080
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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