A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727082



Internal ID10310718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7798002..7798350hg38UCSC Ensembl
Outerchr4:7799729..7800077hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6686753, essv6836883, essv6951344, essv6833260, essv6956027, essv6817461, essv6730339, essv6968748, essv6711306, essv6679889
SamplesSSM083, SSM042, SSM028, SSM047, SSM026, SSM035, SSM033, SSM082, SSM078, SSM025
Known GenesAFAP1
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)esv2727082
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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