A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745395



Internal ID9979679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1754773..1755221hg38UCSC Ensembl
Outerchr12:1863939..1864387hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6862324, essv6724456, essv6834576, essv6752537, essv6720637, essv6970840, essv6735145, essv6936079, essv6768462, essv6718042, essv6898833, essv6920115, essv6779417, essv6741034, essv6924288, essv6728289, essv6908307, essv6949049, essv6775657, essv6842393, essv6876627, essv6710798, essv6970755, essv6803469, essv6763357, essv6712949, essv6800172, essv6834845, essv6879455, essv6873635
SamplesSSM024, SSM045, SSM046, SSM064, SSM073, SSM093, SSM042, SSM088, SSM002, SSM057, SSM028, SSM092, SSM084, SSM021, SSM018, SSM062, SSM017, SSM067, SSM044, SSM001, SSM066, SSM006, SSM072, SSM082, SSM010, SSM091, SSM004, SSM052, SSM049, SSM012
Known GenesADIPOR2
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)esv2745395
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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