A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750052



Internal ID10331022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:76575573..76588739hg38UCSC Ensembl
Outerchr1:77041258..77054424hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3813167
hg1913167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6785050, essv6954837
SamplesSSM069, SSM026
Known GenesST6GALNAC3
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)esv2750052
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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