A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3448571



Internal ID15295520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21350741..21450162hg38UCSC Ensembl
Innerchr17:21352731..21448582hg38UCSC Ensembl
Outerchr17:21350631..21450282hg38UCSC Ensembl
chr17:21254053..21353474hg19UCSC Ensembl
Innerchr17:21256043..21351894hg19UCSC Ensembl
Outerchr17:21253943..21353594hg19UCSC Ensembl
chr17:21194646..21294067hg18UCSC Ensembl
Innerchr17:21196636..21292487hg18UCSC Ensembl
Outerchr17:21194536..21294187hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3899422
hg1999422
hg1899422
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8808786
SamplesNA12878
Known GenesKCNJ12, KCNJ18
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3448571
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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