A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718291



Internal ID9952582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19147206..19147475hg38UCSC Ensembl
Outerchr19:19258015..19258284hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6863580, essv6967461, essv6666417, essv6689049, essv6874130, essv6892083, essv6868386, essv6852777, essv6858735
SamplesSSM027, SSM086, SSM088, SSM089, SSM035, SSM097, SSM011, SSM029, SSM087
Known GenesMEF2B, MEF2BNB-MEF2B
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)esv2718291
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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