A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6819720



Internal ID9872667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51960995..51961073hg38UCSC Ensembl
Outerchr12:52354779..52354857hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745889, esv2745890
Supporting Variants
SamplesSSM078
Known GenesACVR1B
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)essv6819720
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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