A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746339



Internal ID10327309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:107608812..107609011hg38UCSC Ensembl
Outerchr12:108002589..108002788hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959366, essv6882377, essv6775760, essv6728394, essv6823692, essv6857299, essv6977309, essv6891341, essv6862469, essv6812276, essv6752625, essv6783620
SamplesSSM046, SSM079, SSM087, SSM097, SSM088, SSM057, SSM029, SSM026, SSM094, SSM066, SSM068, SSM076
Known GenesBTBD11
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)esv2746339
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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