A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307453



Internal ID14807715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77420368..77420369hg38UCSC Ensembl
Innerchr5:77420350..77420387hg38UCSC Ensembl
Outerchr5:77420349..77420388hg38UCSC Ensembl
chr5:76716193..76716194hg19UCSC Ensembl
Innerchr5:76716175..76716212hg19UCSC Ensembl
Outerchr5:76716174..76716213hg19UCSC Ensembl
chr5:76751949..76751950hg18UCSC Ensembl
Innerchr5:76751968..76751931hg18UCSC Ensembl
Outerchr5:76751930..76751969hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38235
hg19235
hg18235
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7824093, essv7834835, essv7801599, essv7792839, essv7802471, essv7770433, essv7827770, essv7830510, essv7810613, essv7794924, essv7783076, essv7833610, essv7798391, essv7814335, essv7794297, essv7826678, essv7772163, essv7835990, essv7775425, essv7776142, essv7824889, essv7787084, essv7780678, essv7782006, essv7830111, essv7808146, essv7822685, essv7796160, essv7803634, essv7784813, essv7831178, essv7799042
SamplesNA18964, NA12043, NA18605, NA07347, NA18951, NA18561, NA18526, NA18550, NA18545, NA18948, NA18573, NA18949, NA18566, NA18576, NA18563, NA07357, NA12814, NA18592, NA18638, NA11894, NA11995, NA18593, NA18564, NA18942, NA18579, NA18945, NA18940, NA18577, NA12003, NA11993, NA12045, NA18555
Known GenesPDE8B
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307453
Frequency
Sample Size185
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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