A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307879



Internal ID14808141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94877129..94877130hg38UCSC Ensembl
Innerchr1:94877112..94877147hg38UCSC Ensembl
Outerchr1:94877111..94877148hg38UCSC Ensembl
chr1:95342685..95342686hg19UCSC Ensembl
Innerchr1:95342668..95342703hg19UCSC Ensembl
Outerchr1:95342667..95342704hg19UCSC Ensembl
chr1:95115273..95115274hg18UCSC Ensembl
Innerchr1:95115291..95115256hg18UCSC Ensembl
Outerchr1:95115255..95115292hg18UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7797774, essv7815029, essv7771910, essv7794581, essv7801741, essv7824626, essv7801472, essv7823904, essv7792556, essv7799380, essv7797649, essv7827090, essv7795950, essv7810110, essv7822956, essv7822253, essv7770593, essv7820999, essv7819619, essv7830394, essv7806633, essv7773017, essv7829533, essv7811678, essv7788010, essv7828828, essv7834636, essv7835914, essv7791024
SamplesNA12489, NA07347, NA12815, NA18545, NA18603, NA18948, NA18969, NA18608, NA12776, NA12044, NA18943, NA12414, NA11919, NA11994, NA18563, NA18609, NA18547, NA11894, NA18973, NA11995, NA18970, NA18572, NA18558, NA18940, NA18582, NA11992, NA12003, NA18571, NA12717
Known GenesSLC44A3
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307879
Frequency
Sample Size185
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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