A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746483



Internal ID9980767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121149411..121149612hg38UCSC Ensembl
Outerchr12:121587214..121587415hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6912678, essv6945033
SamplesSSM023, SSM015
Known GenesP2RX7
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)esv2746483
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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