A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307786



Internal ID15154734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7845926..7845927hg38UCSC Ensembl
Innerchr5:7845904..7845949hg38UCSC Ensembl
Outerchr5:7845903..7845950hg38UCSC Ensembl
chr5:7846039..7846040hg19UCSC Ensembl
Innerchr5:7846017..7846062hg19UCSC Ensembl
Outerchr5:7846016..7846063hg19UCSC Ensembl
chr5:7899039..7899040hg18UCSC Ensembl
Innerchr5:7899062..7899017hg18UCSC Ensembl
Outerchr5:7899016..7899063hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38293
hg19293
hg18293
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7765259, essv7767454, essv7769142, essv7769971, essv7764511, essv7764086, essv7765944, essv7764808, essv7766864, essv7768353, essv7768972, essv7765401, essv7767649
SamplesNA12045, NA07346, NA11918, NA12287, NA18970, NA19238, NA12872, NA12234, NA11840, NA12249, NA11881, NA12873, NA12874
Known GenesC5orf49
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307786
Frequency
Sample Size185
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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