A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745388



Internal ID9979672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1173911..1174048hg38UCSC Ensembl
Outerchr12:1283077..1283214hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6688242
SamplesSSM035
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)esv2745388
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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