A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6794272



Internal ID9852895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:143900025..144013926hg38UCSC Ensembl
Outerchr4:144821178..144935079hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38113902
hg19113902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728476, esv2728480, esv2728479
Supporting Variants
SamplesSSM071
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)essv6794272
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