A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630942



Internal ID6671075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121176565..121179324hg38UCSC Ensembl
Innerchr12:121176622..121179267hg38UCSC Ensembl
Outerchr12:121176508..121179381hg38UCSC Ensembl
chr12:121614368..121617127hg19UCSC Ensembl
Innerchr12:121614425..121617070hg19UCSC Ensembl
Outerchr12:121614311..121617184hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382760
hg192760
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14619007
SamplesHG01029
Known GenesP2RX7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630942
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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