A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745384



Internal ID9979668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1121639..1122589hg38UCSC Ensembl
Outerchr12:1230805..1231755hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38951
hg19951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv161e201
Supporting Variantsessv6927888, essv6685044
SamplesSSM019, SSM034
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)esv2745384
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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