A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728111



Internal ID10311747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:107053168..107053312hg38UCSC Ensembl
Outerchr4:107974325..107974469hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6860270, essv6865056, essv6854547, essv6956249, essv6962959, essv6973958, essv6907035, essv6670396, essv6817639
SamplesSSM027, SSM087, SSM088, SSM029, SSM026, SSM089, SSM031, SSM014, SSM078
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)esv2728111
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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