A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745377



Internal ID9979661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1079217..1080278hg38UCSC Ensembl
Outerchr12:1188383..1189444hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381062
hg191062
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6936076, essv6749641, essv6977094, essv6916076, essv6743989, essv6668184, essv6710776, essv6970795, essv6949045
SamplesSSM053, SSM006, SSM016, SSM024, SSM056, SSM029, SSM030, SSM021, SSM004
Known GenesERC1
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)esv2745377
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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