A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380560



Internal ID14880833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59724990..59725009hg38UCSC Ensembl
Innerchr12:59724986..59725013hg38UCSC Ensembl
Outerchr12:59724967..59725032hg38UCSC Ensembl
chr12:60118771..60118790hg19UCSC Ensembl
Innerchr12:60118767..60118794hg19UCSC Ensembl
Outerchr12:60118748..60118813hg19UCSC Ensembl
chr12:58405038..58405057hg18UCSC Ensembl
Innerchr12:58405061..58405034hg18UCSC Ensembl
Outerchr12:58405015..58405080hg18UCSC Ensembl
Cytoband12q14.1
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 Variantsessv8677887
SamplesNA19240
Known GenesSLC16A7
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380560
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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