A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748278



Internal ID10329248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113336454..113337041hg38UCSC Ensembl
Outerchr13:113990769..113991356hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38588
hg19588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6920450, essv6836465, essv6768679, essv6673550, essv6761134, essv6788009, essv6783802, essv6912843, essv6945217, essv6752736, essv6741290, essv6796269, essv6772308, essv6668334, essv6936409, essv6720925, essv6695807, essv6966187, essv6749851, essv6846130, essv6977663, essv6842685, essv6867459, essv6747024, essv6916335, essv6717037, essv6857580, essv6755750, essv6941006, essv6932110, essv6835091, essv6924572, essv6873850, essv6909103, essv6807854, essv6971081, essv6905120
SamplesSSM071, SSM027, SSM064, SSM065, SSM087, SSM013, SSM009, SSM057, SSM023, SSM058, SSM028, SSM084, SSM021, SSM018, SSM069, SSM061, SSM029, SSM089, SSM017, SSM003, SSM031, SSM044, SSM014, SSM085, SSM068, SSM082, SSM020, SSM015, SSM016, SSM037, SSM010, SSM091, SSM055, SSM043, SSM052, SSM056, SSM030
Known GenesGRTP1
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)esv2748278
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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