A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745889



Internal ID9980173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51960810..51961312hg38UCSC Ensembl
Outerchr12:52354594..52355096hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38503
hg19503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6885100, essv6862415, essv6819720, essv6867188
SamplesSSM088, SSM089, SSM078, SSM095
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)esv2745889
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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