A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727613



Internal ID10311249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:54549728..54550623hg38UCSC Ensembl
Outerchr4:55415895..55416790hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38896
hg19896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6774186, essv6938499, essv6679949, essv6883653, essv6689989, essv6754122, essv6704539, essv6742732, essv6767141, essv6777696, essv6751204, essv6844526, essv6821963, essv6956684, essv6947328, essv6840783, essv6883833, essv6923774, essv6757047, essv6736575, essv6715038, essv6878227, essv6848300, essv6693663, essv6836961, essv6817536
SamplesSSM059, SSM036, SSM083, SSM024, SSM064, SSM079, SSM093, SSM050, SSM057, SSM058, SSM084, SSM003, SSM067, SSM086, SSM033, SSM066, SSM085, SSM040, SSM078, SSM053, SSM037, SSM022, SSM095, SSM004, SSM043, SSM012
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)esv2727613
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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