A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728600



Internal ID10312236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:158016867..158017644hg38UCSC Ensembl
Outerchr4:158938019..158938796hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38778
hg19778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6854634, essv6817714, essv6697653, essv6860345, essv6956341, essv6725621
SamplesSSM087, SSM038, SSM088, SSM026, SSM007, SSM078
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)esv2728600
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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