A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306807



Internal ID14807069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20853922..20853923hg38UCSC Ensembl
Innerchr12:20853906..20853939hg38UCSC Ensembl
Outerchr12:20853905..20853940hg38UCSC Ensembl
chr12:21006856..21006857hg19UCSC Ensembl
Innerchr12:21006840..21006873hg19UCSC Ensembl
Outerchr12:21006839..21006874hg19UCSC Ensembl
chr12:20898123..20898124hg18UCSC Ensembl
Innerchr12:20898140..20898107hg18UCSC Ensembl
Outerchr12:20898106..20898141hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38297
hg19297
hg18297
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7817336, essv7816326, essv7831979, essv7820463, essv7782015, essv7789488, essv7810557, essv7784941, essv7796422, essv7803685, essv7823566, essv7826808, essv7819686, essv7830388, essv7787322, essv7791312, essv7835799, essv7815295, essv7807427, essv7775149, essv7778592, essv7783842, essv7783147, essv7820951, essv7781187, essv7818195
SamplesNA18561, NA18523, NA19093, NA18550, NA18570, NA18603, NA18969, NA18517, NA18947, NA18573, NA18542, NA19108, NA18576, NA18593, NA12751, NA12006, NA19129, NA18522, NA18558, NA18564, NA18945, NA19141, NA18940, NA19138, NA18909, NA19116
Known GenesSLCO1B3
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306807
Frequency
Sample Size185
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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