A curated catalogue of human genomic structural variation




Variant Details

Variant: esv33998



Internal ID1684591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40657196..41355196hg19UCSC Ensembl
Outerchr17:40557196..41455196hg19UCSC Ensembl
chr17:37910722..38710722hg18UCSC Ensembl
Outerchr17:37810722..38810722hg18UCSC Ensembl
chr17:37910722..38710722hg17UCSC Ensembl
Outerchr17:37810722..38810722hg17UCSC Ensembl
chr17:41030361..41830361hg16UCSC Ensembl
Outerchr17:40930361..41930361hg16UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
hg16n/a
Variant TypeOTHER Inversion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variants
SamplesRP11
Known GenesAARSD1, AOC2, AOC3, AOC4, ATP6V0A1, BECN1, BRCA1, CCDC56, CCR10, CNTD1, CNTNAP1, COASY, EZH1, FAM134C, G6PC, HSD17B1, IFI35, LOC100190938, LOC388387, MLX, NAGLU, NBR1, NBR2, PLEKHH3, PSMC3IP, PSME3, RAMP2, RND2, RPL27, RUNDC1, TUBG1, TUBG2, VAT1, VPS25, WNK4
MethodPCR
AnalysisWe genotyped positive clones for 60 microsatellite markers and used the genotypes to generate the chromosome specific assemblies.The two RP11 chromosomes represent MAPT haplotypes of type H1 and H2 based on the characteristic alleles for a dinucleotide marker in intron nine (DG17S142) and a characteristic 238-bp deletion in the same intron on the H2 background.
PlatformNot Provided
Comments
ReferenceStefansson et al 2005
Pubmed ID15654335
Accession Number(s)esv33998
Frequency
Sample Size1
Observed Gainn/a
Observed Lossn/a
Observed Complexn/a
Frequencyn/a


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