A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743652



Internal ID10324622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10274508..10274972hg38UCSC Ensembl
Outerchr1:10334566..10335030hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38465
hg19465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6871706, essv6847002, essv6784499, essv6895842, essv6925681, essv6710573, essv6668938, essv6913993, essv6950152, essv6821172, essv6950543, essv6784986, essv6937671, essv6729612, essv6696983, essv6748253, essv6714236, essv6853224, essv6954731, essv6707257, essv6876698, essv6780860, essv6692753, essv6773430
SamplesSSM008, SSM079, SSM087, SSM038, SSM009, SSM042, SSM041, SSM047, SSM069, SSM026, SSM019, SSM031, SSM086, SSM066, SSM068, SSM016, SSM037, SSM022, SSM091, SSM025, SSM004, SSM099, SSM043, SSM012
Known GenesKIF1B
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)esv2743652
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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