A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745880



Internal ID10326850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51198884..51199408hg38UCSC Ensembl
Outerchr12:51592667..51593191hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38525
hg19525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6970832, essv6783581, essv6851210, essv6959298, essv6673179, essv6936154, essv6949110, essv6779479, essv6842457, essv6924367, essv6827722, essv6702473
SamplesSSM024, SSM039, SSM028, SSM084, SSM021, SSM018, SSM026, SSM031, SSM067, SSM086, SSM068, SSM080
Known GenesPOU6F1
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)esv2745880
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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