A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744772



Internal ID10325742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:73709048..73715876hg38UCSC Ensembl
Outerchr11:73420093..73426921hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg386829
hg196829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6948980, essv6698687, essv6876573, essv6763321, essv6857046, essv6976971, essv6827607, essv6953120, essv6842335, essv6791759
SamplesSSM024, SSM087, SSM038, SSM092, SSM084, SSM029, SSM062, SSM080, SSM070, SSM025
Known GenesRAB6A
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)esv2744772
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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