A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745704



Internal ID10326674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:30558065..30559030hg38UCSC Ensembl
Outerchr12:30710998..30711963hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38966
hg19966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6845952, essv6936132, essv6857201, essv6752570, essv6783566
SamplesSSM087, SSM057, SSM021, SSM085, SSM068
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)esv2745704
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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