A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745450



Internal ID9979734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:4701770..4702391hg38UCSC Ensembl
Outerchr12:4810936..4811557hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38622
hg19622
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6851114, essv6771509, essv6691561, essv6681534, essv6924294, essv6775663, essv6834852, essv6898899, essv6668187, essv6959206, essv6931796, essv6842400, essv6787720, essv6716755, essv6949053, essv6912555, essv6695507, essv6953186, essv6823588, essv6827666
SamplesSSM036, SSM008, SSM024, SSM079, SSM084, SSM018, SSM069, SSM026, SSM086, SSM033, SSM066, SSM082, SSM020, SSM015, SSM080, SSM037, SSM025, SSM043, SSM030, SSM012
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)esv2745450
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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