A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630943



Internal ID6671076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121185774..121204061hg38UCSC Ensembl
Innerchr12:121185774..121204061hg38UCSC Ensembl
Outerchr12:121185587..121204230hg38UCSC Ensembl
chr12:121623577..121641864hg19UCSC Ensembl
Innerchr12:121623577..121641864hg19UCSC Ensembl
Outerchr12:121623390..121642033hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3818288
hg1918288
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14619008
SamplesHG02728
Known GenesP2RX7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630943
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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