A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6783582



Internal ID10187338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:53030032..53030276hg38UCSC Ensembl
Outerchr12:53423816..53424060hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745903, esv2745901
Supporting Variants
SamplesSSM068
Known GenesEIF4B
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)essv6783582
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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