A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6749445



Internal ID9811055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:46147796..46854300hg38UCSC Ensembl
Outerchr10:46698500..47330067hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38706505
hg19631568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736152
Supporting Variants
SamplesSSM056
Known GenesAGAP9, ANXA8, BMS1P1, BMS1P2, BMS1P5, BMS1P6, FAM25C, FAM25G, FAM35BP, GLUD1P7, GPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R, SYT15
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)essv6749445
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