A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6866748



Internal ID9916868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:46802558..48992343hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg192189786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736163
Supporting Variants
SamplesSSM089
Known GenesAGAP9, ANTXRL, ANTXRLP1, ANXA8, ANXA8L1, ANXA8L2, BMS1P1, BMS1P2, BMS1P5, BMS1P6, CTSLP2, FAM21B, FAM25B, FAM25C, FAM25G, FAM35BP, FAM35DP, FRMPD2P1, GDF10, GDF2, GLUD1P7, GPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R, PTPN20A, PTPN20B, RBP3, SYT15, ZNF488
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6866748
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer