A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667845



Internal ID9587264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31675060..31677135hg38UCSC Ensembl
chr12:31827994..31830069hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382076
hg192076
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5594477, essv5442240, essv6092271, essv6517757, essv5493823
SamplesNA18868, NA19900, NA19704, NA19707, NA19468
Known GenesAMN1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667845
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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