A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3422273



Internal ID14922545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45306329..45306341hg38UCSC Ensembl
Innerchr17:45306325..45306343hg38UCSC Ensembl
Outerchr17:45306313..45306355hg38UCSC Ensembl
chr17:43383695..43383707hg19UCSC Ensembl
Innerchr17:43383691..43383709hg19UCSC Ensembl
Outerchr17:43383679..43383721hg19UCSC Ensembl
chr17:40739478..40739490hg18UCSC Ensembl
Innerchr17:40739492..40739474hg18UCSC Ensembl
Outerchr17:40739462..40739504hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38222
hg19222
hg18222
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673427
SamplesNA19239
Known GenesMAP3K14
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3422273
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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