A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746411



Internal ID10327381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:114634434..114652064hg38UCSC Ensembl
Outerchr12:115072239..115089869hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3817631
hg1917631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6920257, essv6936208, essv6977325, essv6695624, essv6851303, essv6939629, essv6716863
SamplesSSM021, SSM029, SSM017, SSM003, SSM086, SSM037, SSM043
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)esv2746411
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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