A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6566401



Internal ID9543804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8864256..8865287hg38UCSC Ensembl
chr12:9016852..9017883hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381032
hg191032
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2661025
Supporting Variants
SamplesHG00280
Known GenesA2ML1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6566401
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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