A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6700656



Internal ID9766812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:177593110..177593397hg38UCSC Ensembl
Outerchr4:178514264..178514551hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728790, esv2728772
Supporting Variants
SamplesSSM039
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)essv6700656
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