A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745428



Internal ID9979712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:3198316..3199524hg38UCSC Ensembl
Outerchr12:3307482..3308690hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg381209
hg191209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6940290, essv6709454, essv6800178, essv6944891, essv6882288, essv6732084, essv6827661, essv6904879, essv6775661, essv6936084, essv6695506, essv6977104, essv6702412, essv6685048, essv6688247, essv6965723, essv6706178, essv6724460, essv6783534, essv6867099, essv6834849, essv6823586, essv6959202, essv6728293, essv6912551, essv6712952, essv6668186, essv6691560, essv6795991, essv6908816, essv6673097, essv6815431
SamplesSSM036, SSM071, SSM027, SSM045, SSM046, SSM079, SSM039, SSM013, SSM042, SSM041, SSM023, SSM021, SSM047, SSM029, SSM026, SSM089, SSM035, SSM094, SSM031, SSM014, SSM066, SSM068, SSM040, SSM072, SSM082, SSM015, SSM080, SSM037, SSM077, SSM022, SSM034, SSM030
Known GenesTSPAN9
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)esv2745428
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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