A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727064



Internal ID10310700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7676778..7676949hg38UCSC Ensembl
Outerchr4:7678505..7678676hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6686751, essv6864872
SamplesSSM089, SSM035
Known GenesSORCS2
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)esv2727064
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