A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3323113



Internal ID14823394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20853921..20853930hg38UCSC Ensembl
Innerchr12:20853914..20853937hg38UCSC Ensembl
Outerchr12:20853905..20853946hg38UCSC Ensembl
chr12:21006855..21006864hg19UCSC Ensembl
Innerchr12:21006848..21006871hg19UCSC Ensembl
Outerchr12:21006839..21006880hg19UCSC Ensembl
chr12:20898122..20898131hg18UCSC Ensembl
Innerchr12:20898138..20898115hg18UCSC Ensembl
Outerchr12:20898106..20898147hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8956210, essv8956229, essv8956213, essv8956211, essv8956222, essv8956230, essv8956218, essv8956209, essv8956208, essv8956207, essv8956224, essv8956231, essv8956206, essv8956227, essv8956221, essv8956212, essv8956205, essv8956219, essv8956217, essv8956220, essv8956228, essv8956215, essv8956223, essv8956216
SamplesNA18947, NA18561, NA18603, NA12751, NA18940, NA18550, NA18558, NA19138, NA18573, NA18523, NA18570, NA18593, NA18945, NA18576, NA18542, NA18909, NA19108, NA18517, NA18564, NA19093, NA19116, NA19129, NA12006, NA18522
Known GenesSLCO1B3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3323113
Frequency
Sample Size185
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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