A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746599



Internal ID10327569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:126583091..126584070hg38UCSC Ensembl
Outerchr12:127067637..127068616hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38980
hg19980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6711632, essv6866488, essv6900110, essv6673271, essv6977349, essv6668256
SamplesSSM011, SSM029, SSM031, SSM006, 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)esv2746599
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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