A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734241



Internal ID9968568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:34608148..34608433hg38UCSC Ensembl
Outerchr7:34647760..34648045hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6834000, essv6799109, essv6855583, essv6865856, essv6930699, essv6698071, essv6849485, essv6890394, essv6671474
SamplesSSM087, SSM038, SSM097, SSM089, SSM031, SSM086, SSM072, SSM082, SSM020
Known GenesNPSR1-AS1
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)esv2734241
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