A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728781



Internal ID9963096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:177045882..177229549hg38UCSC Ensembl
Outerchr4:177967036..178150703hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg38183668
hg19183668
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6968960, essv6822107, essv6790147, essv6885042, essv6956376, essv6910957, essv6693792, essv6938627, essv6774300, essv6974105, essv6715152, essv6934300, essv6670537, essv6951528
SamplesSSM079, SSM028, SSM021, SSM029, SSM026, SSM031, SSM066, SSM015, SSM037, SSM022, SSM070, SSM025, 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)esv2728781
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