A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745571



Internal ID9979855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:13045768..13046439hg38UCSC Ensembl
Outerchr12:13198702..13199373hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38672
hg19672
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6749676, essv6936116, essv6755539, essv6965759, essv6735180, essv6819672, essv6977158, essv6851159, essv6758219, essv6857177, essv6737882, essv6771965, essv6876659
SamplesSSM059, SSM008, SSM027, SSM087, SSM050, SSM058, SSM092, SSM021, SSM029, SSM086, SSM078, SSM049, SSM056
Known GenesKIAA1467
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)esv2745571
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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