A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746564



Internal ID10327534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:125203858..125204528hg38UCSC Ensembl
Outerchr12:125688404..125689074hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38671
hg19671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6851322, essv6873744, essv6768561, essv6953300, essv6688361, essv6862485, essv6857330, essv6842511, essv6936222, essv6971973, essv6846014, essv6965902, essv6711599, essv6831378, essv6735262, essv6806488, essv6728264, essv6819796, essv6702531, essv6920276, essv6891350, essv6755636, essv6673264, essv6909174
SamplesSSM027, SSM064, SSM087, SSM097, SSM039, SSM009, SSM088, SSM002, SSM058, SSM084, SSM021, SSM017, SSM035, SSM031, SSM001, SSM086, SSM006, SSM085, SSM081, SSM078, SSM091, SSM025, SSM004, SSM049
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)esv2746564
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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