A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745429



Internal ID9979713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:3198401..3198880hg38UCSC Ensembl
Outerchr12:3307567..3308046hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38480
hg19480
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, essv6834849, essv6823586, essv6728293, essv6912551, essv6712952, essv6691560, essv6795991, essv6908816, essv6673097, essv6815431
SamplesSSM036, SSM071, SSM027, SSM045, SSM046, SSM079, SSM039, SSM013, SSM042, SSM041, SSM023, SSM021, SSM047, SSM029, SSM035, SSM094, SSM031, SSM014, SSM066, SSM040, SSM072, SSM082, SSM015, SSM080, SSM037, SSM077, SSM022, SSM034
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)esv2745429
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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