A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6722878



Internal ID9787386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:143900028..144013928hg38UCSC Ensembl
Outerchr4:144821181..144935081hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38113901
hg19113901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728476, esv2728480, esv2728479
Supporting Variants
SamplesSSM045
Known GenesGYPB, GYPE
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)essv6722878
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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