A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747641



Internal ID10328611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:43904842..43905826hg38UCSC Ensembl
Outerchr1:44370514..44371498hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38985
hg19985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6748776, essv6889025, essv6813193, essv6906117
SamplesSSM008, SSM097, SSM014, SSM077
Known GenesST3GAL3
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)esv2747641
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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