A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3325342



Internal ID15172323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99550656..99550666hg38UCSC Ensembl
Innerchr6:99550650..99550670hg38UCSC Ensembl
Outerchr6:99550640..99550682hg38UCSC Ensembl
chr6:99998532..99998542hg19UCSC Ensembl
Innerchr6:99998526..99998546hg19UCSC Ensembl
Outerchr6:99998516..99998558hg19UCSC Ensembl
chr6:100105253..100105263hg18UCSC Ensembl
Innerchr6:100105267..100105247hg18UCSC Ensembl
Outerchr6:100105237..100105279hg18UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8931466, essv8931471, essv8931469, essv8931465, essv8931467, essv8931475, essv8931474, essv8931473, essv8931476, essv8931472, essv8931468
SamplesNA18508, NA18504, NA18870, NA19172, NA18499, NA19225, NA18523, NA19108, NA19147, NA18517, NA18522
Known GenesCCNC
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3325342
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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