A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745890



Internal ID9980174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51960982..51961090hg38UCSC Ensembl
Outerchr12:52354766..52354874hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6862415, essv6819720, essv6867188
SamplesSSM088, SSM089, SSM078
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)esv2745890
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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