A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733251



Internal ID9967574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:12774812..12775446hg38UCSC Ensembl
Outerchr10:12816811..12817445hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38635
hg19635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv93e201
Supporting Variantsessv6740772, essv6775401, essv6923972, essv6861958, essv6672602, essv6735798, essv6856658, essv6915842, essv6819272, essv6958686, essv6866711, essv6757991, essv6896120, essv6712714, essv6952879, essv6876408, essv6904601, essv6803121, essv6746572
SamplesSSM059, SSM087, SSM013, SSM009, SSM042, SSM088, SSM092, SSM018, SSM026, SSM089, SSM031, SSM066, SSM007, SSM078, SSM016, SSM055, SSM025, SSM052, SSM012
Known GenesCAMK1D
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)esv2733251
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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