A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306940



Internal ID14807202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:181632137..181632138hg38UCSC Ensembl
Innerchr1:181632119..181632156hg38UCSC Ensembl
Outerchr1:181632118..181632157hg38UCSC Ensembl
chr1:181601273..181601274hg19UCSC Ensembl
Innerchr1:181601255..181601292hg19UCSC Ensembl
Outerchr1:181601254..181601293hg19UCSC Ensembl
chr1:179867896..179867897hg18UCSC Ensembl
Innerchr1:179867915..179867878hg18UCSC Ensembl
Outerchr1:179867877..179867916hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38259
hg19259
hg18259
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7806447, essv7805081, essv7789483, essv7789125, essv7803975, essv7774073, essv7786290, essv7790351, essv7807122, essv7779828, essv7816515, essv7775166, essv7814071, essv7792063, essv7770885, essv7836514, essv7790497, essv7826311, essv7783698, essv7802883, essv7825900
SamplesNA18502, NA18508, NA11920, NA12004, NA18510, NA12155, NA18519, NA12891, NA18916, NA19137, NA12815, NA18520, NA12489, NA12878, NA18516, NA19225, NA18517, NA07037, NA19129, NA12006, NA07000
Known GenesCACNA1E
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306940
Frequency
Sample Size185
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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