A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728897



Internal ID9963212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:184652925..184653044hg38UCSC Ensembl
Outerchr4:185574079..185574198hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6963105, essv6670563, essv6974133, essv6854684, essv6817764, essv6860386, essv6848560, essv6865171, essv6956399
SamplesSSM027, SSM087, SSM088, SSM029, SSM026, SSM089, SSM031, SSM086, SSM078
Known GenesPRIMPOL
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)esv2728897
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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