A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8672424



Internal ID14683739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59725000..59725015hg38UCSC Ensembl
Innerchr12:59724994..59725021hg38UCSC Ensembl
Outerchr12:59724979..59725036hg38UCSC Ensembl
chr12:60118781..60118796hg19UCSC Ensembl
Innerchr12:60118775..60118802hg19UCSC Ensembl
Outerchr12:60118760..60118817hg19UCSC Ensembl
chr12:58405048..58405063hg18UCSC Ensembl
Innerchr12:58405069..58405042hg18UCSC Ensembl
Outerchr12:58405027..58405084hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38241
hg19241
hg18241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3354729
Supporting Variants
SamplesNA19238
Known GenesSLC16A7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8672424
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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