A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736196



Internal ID9970528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:46525418..46525860hg38UCSC Ensembl
Outerchr10:47058558..47059000hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38443
hg19443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6684817, essv6799884, essv6795706, essv6827381, essv6958727, essv6838323, essv6924002, essv6856700, essv6787437, essv6944557, essv6724190, essv6720379
SamplesSSM083, SSM071, SSM045, SSM087, SSM023, SSM018, SSM069, SSM026, SSM044, SSM072, SSM080, SSM034
Known Genes
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)esv2736196
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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