A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161417



Internal ID7906131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:6789933..7646709hg38UCSC Ensembl
Innerchr17:6693252..7550027hg19UCSC Ensembl
Innerchr17:6633976..7490752hg18UCSC Ensembl
Innerchr17:6633976..7490752hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38856777
hg19856776
hg18856777
hg17856777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422288
Supporting Variants
SamplesND01705
Known GenesACADVL, ACAP1, ALOX12, ALOX12P2, ASGR1, ASGR2, BCL6B, C17orf49, C17orf74, CD68, CHRNB1, CLDN7, CLEC10A, CTDNEP1, DLG4, DVL2, EIF4A1, EIF5A, ELP5, FGF11, FXR2, GABARAP, GPS2, KCTD11, LOC100506713, MIR195, MIR324, MIR497, MIR497HG, MPDU1, NEURL4, NLGN2, PHF23, PLSCR3, POLR2A, RNASEK, RNASEK-C17orf49, SAT2, SENP3, SENP3-EIF4A1, SHBG, SLC16A11, SLC16A13, SLC2A4, SLC35G6, SNORA48, SNORA67, SNORD10, SOX15, SPEM1, TEKT1, TMEM102, TMEM256, TMEM256-PLSCR3, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, YBX2, ZBTB4
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161417
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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