A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727157



Internal ID9961465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:9926031..9926485hg38UCSC Ensembl
Outerchr4:9927655..9928109hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6675933, essv6929883, essv6968757, essv6693600, essv6883165, essv6938432, essv6848213, essv6789927, essv6922537, essv6951352, essv6956037, essv6910793, essv6781659, essv6714983
SamplesSSM022, SSM086, SSM043, SSM025, SSM020, SSM032, SSM012, SSM028, SSM037, SSM068, SSM015, SSM026, SSM018, SSM070
Known GenesSLC2A9
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)esv2727157
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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