A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7755027



Internal ID13568687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59725002..59725003hg38UCSC Ensembl
Innerchr12:59724975..59725030hg38UCSC Ensembl
Outerchr12:59724974..59725031hg38UCSC Ensembl
chr12:60118783..60118784hg19UCSC Ensembl
Innerchr12:60118756..60118811hg19UCSC Ensembl
Outerchr12:60118755..60118812hg19UCSC Ensembl
chr12:58405050..58405051hg18UCSC Ensembl
Innerchr12:58405078..58405023hg18UCSC Ensembl
Outerchr12:58405022..58405079hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38295
hg19295
hg18295
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306780
Supporting Variants
SamplesNA18523
Known GenesSLC16A7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7755027
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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