A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307386



Internal ID14807648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42666177..42666178hg38UCSC Ensembl
Innerchr5:42666160..42666195hg38UCSC Ensembl
Outerchr5:42666159..42666196hg38UCSC Ensembl
chr5:42666279..42666280hg19UCSC Ensembl
Innerchr5:42666262..42666297hg19UCSC Ensembl
Outerchr5:42666261..42666298hg19UCSC Ensembl
chr5:42702036..42702037hg18UCSC Ensembl
Innerchr5:42702054..42702019hg18UCSC Ensembl
Outerchr5:42702018..42702055hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38302
hg19302
hg18302
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7825372, essv7779630, essv7778750, essv7831781, essv7785125, essv7817866, essv7797498, essv7815766, essv7823033, essv7794238, essv7806532, essv7831961, essv7805917, essv7821538, essv7799756, essv7818250, essv7835730, essv7829856
SamplesNA12489, NA07051, NA19257, NA19147, NA19143, NA19239, NA12761, NA11831, NA19190, NA18522, NA19138, NA18907, NA18909, NA12812, NA11992, NA19240, NA12874, NA18853
Known GenesGHR
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307386
Frequency
Sample Size185
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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