A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749164



Internal ID10330134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:103160159..103161275hg38UCSC Ensembl
Outerchr14:103626496..103627612hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg381117
hg191117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6761193, essv6788095, essv6695904, essv6698984, essv6924655, essv6775998, essv6706493, essv6749911, essv6920533, essv6959837, essv6977834, essv6681880
SamplesSSM038, SSM018, SSM069, SSM061, SSM029, SSM026, SSM017, SSM033, SSM066, SSM040, SSM037, SSM056
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)esv2749164
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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