A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730839



Internal ID9965156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:140842540..140859393hg38UCSC Ensembl
Outerchr5:140222125..140238978hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3816854
hg1916854
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6938841, essv6693996
SamplesSSM037, SSM022
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
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)esv2730839
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