A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747607



Internal ID10328577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:71553194..71553493hg38UCSC Ensembl
Outerchr13:72127326..72127625hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv230e201
Supporting Variantsessv6851477, essv6688424, essv6862595, essv6823808, essv6673424, essv6796203, essv6827903, essv6909046, essv6882461, essv6888127, essv6803627, essv6977547, essv6909047
SamplesSSM071, SSM079, SSM073, SSM088, SSM029, SSM096, SSM035, SSM094, SSM031, SSM014, SSM086, SSM080
Known GenesDACH1
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)esv2747607
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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