A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306119



Internal ID14806381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42625749..42625750hg38UCSC Ensembl
Innerchr5:42625727..42625772hg38UCSC Ensembl
Outerchr5:42625726..42625773hg38UCSC Ensembl
chr5:42625851..42625852hg19UCSC Ensembl
Innerchr5:42625829..42625874hg19UCSC Ensembl
Outerchr5:42625828..42625875hg19UCSC Ensembl
chr5:42661608..42661609hg18UCSC Ensembl
Innerchr5:42661631..42661586hg18UCSC Ensembl
Outerchr5:42661585..42661632hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38291
hg19291
hg18291
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7765432, essv7769258, essv7764575, essv7766641, essv7766907
SamplesNA11881, NA12249, NA11840, NA12814, NA12045
Known GenesGHR
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306119
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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