A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743837



Internal ID10324807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133202488..133203554hg38UCSC Ensembl
Outerchr10:135015992..135017058hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg381067
hg191067
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6695340, essv6935911, essv6904722, essv6970580, essv6862139, essv6850859, essv6668094, essv6752425, essv6958939, essv6976781, essv6760806, essv6771868, essv6755383, essv6740888, essv6779257, essv6746671, essv6912392, essv6737738, essv6842252, essv6879345, essv6749526, essv6787568, essv6765649, essv6924135, essv6716591
SamplesSSM065, SSM013, SSM093, SSM050, SSM088, SSM057, SSM058, SSM028, SSM084, SSM021, SSM018, SSM069, SSM061, SSM029, SSM026, SSM067, SSM086, SSM015, SSM037, SSM055, SSM043, SSM052, SSM056, SSM030, SSM063
Known GenesKNDC1
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)esv2743837
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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