A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728599



Internal ID10312235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:158016226..158017648hg38UCSC Ensembl
Outerchr4:158937378..158938800hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg381423
hg191423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6854634, essv6759728, essv6697653, essv6860345, essv6956341, essv6974065, essv6725621
SamplesSSM087, SSM038, SSM088, SSM061, SSM029, SSM026, SSM007
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)esv2728599
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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