A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6082594



Internal ID9059997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121164341..121167482hg38UCSC Ensembl
chr12:121602144..121605285hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383142
hg193142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669036
Supporting Variants
SamplesHG01350
Known GenesP2RX7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6082594
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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