A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3339531



Internal ID14839801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42666172..42666184hg38UCSC Ensembl
Innerchr5:42666168..42666186hg38UCSC Ensembl
Outerchr5:42666156..42666198hg38UCSC Ensembl
chr5:42666274..42666286hg19UCSC Ensembl
Innerchr5:42666270..42666288hg19UCSC Ensembl
Outerchr5:42666258..42666300hg19UCSC Ensembl
chr5:42702031..42702043hg18UCSC Ensembl
Innerchr5:42702045..42702027hg18UCSC Ensembl
Outerchr5:42702015..42702057hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8924230, essv8924227, essv8924232, essv8924223, essv8924222, essv8924226, essv8924229, essv8924237, essv8924228, essv8924235, essv8924234, essv8924231, essv8924233
SamplesNA12489, NA07051, NA19257, NA19147, NA12761, NA11831, NA19190, NA18522, NA19138, NA18907, NA18909, NA11992, NA18853
Known GenesGHR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3339531
Frequency
Sample Size185
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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