A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731934



Internal ID10315570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:37643817..37644331hg38UCSC Ensembl
Outerchr6:37611593..37612107hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38515
hg19515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6957009, essv6694165, essv6943442, essv6790517, essv6934727, essv6841268, essv6782222, essv6969378, essv6923081, essv6930444, essv6947801
SamplesSSM024, SSM023, SSM028, SSM084, SSM021, SSM018, SSM026, SSM068, SSM020, SSM037, SSM070
Known GenesMDGA1
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)esv2731934
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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