A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724595



Internal ID9958897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:230198434..230198627hg38UCSC Ensembl
Outerchr1:230334180..230334373hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6786253, essv6789348, essv6889174, essv6961838, essv6898764, essv6950743, essv6804562, essv6955036, essv6821361, essv6781067
SamplesSSM027, SSM025, SSM097, SSM100, SSM009, SSM079, SSM068, SSM074, SSM026, SSM070
Known GenesGALNT2
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)esv2724595
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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