A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422220



Internal ID1219986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:136584135..137350098hg38UCSC Ensembl
Innerchr9:139478587..140244550hg19UCSC Ensembl
Innerchr9:138598408..139364371hg18UCSC Ensembl
Innerchr9:136754424..137520387hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38765964
hg19765964
hg18765964
hg17765964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161514
SamplesND01705
Known GenesABCA2, AGPAT2, ANAPC2, C8G, C9orf139, C9orf142, C9orf169, C9orf172, C9orf173, CCDC183, CCDC183-AS1, CLIC3, DPP7, EDF1, EGFL7, ENTPD2, EXD3, FAM166A, FAM69B, FBXW5, FUT7, GRIN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCNL1, LOC100128593, LOC100129722, LRRC26, MAMDC4, MAN1B1, MAN1B1-AS1, MIR126, MIR3621, MIR4292, MIR4479, MIR6722, NDOR1, NELFB, NPDC1, NRARP, PHPT1, PTGDS, RABL6, RNF208, RNF224, SAPCD2, SLC34A3, SNHG7, SNORA17, SNORA43, SSNA1, TMEM141, TMEM203, TMEM210, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422220
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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