A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6897700



Internal ID10291849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:103899615..103899934hg38UCSC Ensembl
Outerchr12:104293393..104293712hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746299
Supporting Variants
SamplesSSM099
Known GenesGNN
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)essv6897700
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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