A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746281



Internal ID9980565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:101882159..101883523hg38UCSC Ensembl
Outerchr12:102275937..102277301hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381365
hg191365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6755615, essv6909074, essv6834938, essv6744074, essv6763443, essv6728390, essv6668244, essv6732183, essv6977293
SamplesSSM053, SSM082, SSM062, SSM029, SSM030, SSM047, SSM002, SSM046, SSM058
Known GenesDRAM1
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)esv2746281
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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