A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668845



Internal ID9588264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27761210..27763850hg38UCSC Ensembl
chr12:27914143..27916783hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg382641
hg192641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6393541, essv5685442, essv5738516
SamplesHG01140, HG01497, HG01491
Known GenesMANSC4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668845
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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