A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728249



Internal ID10311885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:121311379..121311602hg38UCSC Ensembl
Outerchr4:122232534..122232757hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6869391, essv6942870, essv6848443, essv6924396, essv6860295, essv6910910, essv6829786, essv6718994, essv6930025, essv6790093, essv6730478, essv6767197, essv6770388, essv6781789, essv6878303, essv6700585, essv6739587
SamplesSSM064, SSM065, SSM039, SSM093, SSM088, SSM023, SSM090, SSM047, SSM003, SSM044, SSM086, SSM068, SSM081, SSM020, SSM015, SSM070, SSM052
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)esv2728249
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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