A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746515



Internal ID9980799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123974024..124011545hg38UCSC Ensembl
Outerchr12:124458571..124496092hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3837522
hg1937522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6709568
SamplesSSM041
Known GenesZNF664, ZNF664-FAM101A
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)esv2746515
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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