A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745380



Internal ID9979664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1084891..1085476hg38UCSC Ensembl
Outerchr12:1194057..1194642hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38586
hg19586
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6949046, essv6702407, essv6752534, essv6755502
SamplesSSM057, SSM039, SSM024, SSM058
Known GenesERC1
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)esv2745380
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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