A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8932007



Internal ID14514214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:109781765..109781776hg38UCSC Ensembl
Innerchr6:109781755..109781783hg38UCSC Ensembl
Outerchr6:109781744..109781794hg38UCSC Ensembl
chr6:110102968..110102979hg19UCSC Ensembl
Innerchr6:110102958..110102986hg19UCSC Ensembl
Outerchr6:110102947..110102997hg19UCSC Ensembl
chr6:110209661..110209672hg18UCSC Ensembl
Innerchr6:110209679..110209651hg18UCSC Ensembl
Outerchr6:110209640..110209690hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38263
hg19263
hg18263
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3436310
Supporting Variants
SamplesNA18945
Known GenesFIG4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8932007
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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