A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307325



Internal ID15154273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212963561..212963562hg38UCSC Ensembl
Innerchr1:212963543..212963580hg38UCSC Ensembl
Outerchr1:212963542..212963581hg38UCSC Ensembl
chr1:213136903..213136904hg19UCSC Ensembl
Innerchr1:213136885..213136922hg19UCSC Ensembl
Outerchr1:213136884..213136923hg19UCSC Ensembl
chr1:211203526..211203527hg18UCSC Ensembl
Innerchr1:211203545..211203508hg18UCSC Ensembl
Outerchr1:211203507..211203546hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38304
hg19304
hg18304
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7818270, essv7785328, essv7792441, essv7786457, essv7835024, essv7809138, essv7771455, essv7817402, essv7823268, essv7789694, essv7832940, essv7778821, essv7775186
SamplesNA07346, NA18916, NA18498, NA18912, NA18853, NA19099, NA18523, NA12043, NA18909, NA18517, NA07051, NA19129, NA18522
Known GenesVASH2
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307325
Frequency
Sample Size185
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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