A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733340



Internal ID10316976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168316154..168316632hg38UCSC Ensembl
Outerchr6:168716834..168717312hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6911489, essv6952055, essv6680533, essv6881536, essv6899816, essv6808550, essv6701258, essv6671360, essv6969531, essv6849359, essv6748872, essv6872891, essv6751725, essv6802684, essv6861040
SamplesSSM100, SSM075, SSM039, SSM073, SSM088, SSM057, SSM028, SSM094, SSM031, SSM086, SSM033, SSM015, SSM091, SSM025, SSM056
Known GenesDACT2
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)esv2733340
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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