A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864580



Internal ID14396018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44443853..44443868hg38UCSC Ensembl
Innerchr6:44443855..44443866hg38UCSC Ensembl
Outerchr6:44443851..44443870hg38UCSC Ensembl
chr6:44411590..44411605hg19UCSC Ensembl
Innerchr6:44411592..44411603hg19UCSC Ensembl
Outerchr6:44411588..44411607hg19UCSC Ensembl
chr6:44519568..44519583hg18UCSC Ensembl
Innerchr6:44519570..44519581hg18UCSC Ensembl
Outerchr6:44519566..44519585hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3443545
Supporting Variants
SamplesNA18871
Known GenesCDC5L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864580
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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