A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745820



Internal ID10326790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:42303883..42306266hg38UCSC Ensembl
Outerchr12:42697685..42700068hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382384
hg192384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6879506, essv6940352, essv6760984, essv6805843, essv6732146, essv6899465, essv6900656, essv6775714, essv6876674, essv6944968, essv6763410, essv6939163, essv6796041, essv6965791, essv6779472, essv6927948, essv6857219, essv6838636, essv6831316, essv6806396, essv6691617, essv6752580
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM087, SSM009, SSM093, SSM074, SSM057, SSM023, SSM092, SSM047, SSM061, SSM062, SSM019, SSM003, SSM067, SSM066, SSM081, SSM022, SSM012
Known Genes
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)esv2745820
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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