A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864441



Internal ID13316922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:39257796..39257820hg38UCSC Ensembl
Innerchr5:39257758..39257858hg38UCSC Ensembl
Outerchr5:39257734..39257882hg38UCSC Ensembl
chr5:39257898..39257922hg19UCSC Ensembl
Innerchr5:39257860..39257960hg19UCSC Ensembl
Outerchr5:39257836..39257984hg19UCSC Ensembl
chr5:39293655..39293679hg18UCSC Ensembl
Innerchr5:39293717..39293617hg18UCSC Ensembl
Outerchr5:39293593..39293741hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3397789
Supporting Variants
SamplesNA12005
Known GenesFYB
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864441
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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