A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728715



Internal ID9963030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:168692819..168693573hg38UCSC Ensembl
Outerchr4:169613970..169614724hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38755
hg19755
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6848530, essv6757148, essv6934291, essv6700639, essv6792077, essv6817737, essv6860360, essv6748459, essv6927262, essv6956360, essv6924874, essv6974093, essv6854655, essv6742837, essv6739637, essv6762402
SamplesSSM059, SSM087, SSM039, SSM009, SSM088, SSM021, SSM029, SSM062, SSM026, SSM003, SSM001, SSM086, SSM078, SSM053, SSM052, SSM056
Known GenesPALLD
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)esv2728715
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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