A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630941



Internal ID6671074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121164317..121167504hg38UCSC Ensembl
Innerchr12:121164317..121167504hg38UCSC Ensembl
Outerchr12:121164080..121167732hg38UCSC Ensembl
chr12:121602120..121605307hg19UCSC Ensembl
Innerchr12:121602120..121605307hg19UCSC Ensembl
Outerchr12:121601883..121605535hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383188
hg193188
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14619006
SamplesHG01350
Known GenesP2RX7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630941
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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