A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746086



Internal ID10327056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30609442..30610328hg38UCSC Ensembl
Outerchr1:31082289..31083175hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38887
hg19887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933324, essv6759063, essv6871730, essv6744951, essv6929072, essv6914010, essv6719054
SamplesSSM021, SSM061, SSM020, SSM007, SSM016, SSM091, SSM055
Known Genes
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)esv2746086
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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