A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629580



Internal ID7016401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55523693..55530996hg38UCSC Ensembl
chr12:55917477..55924780hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg387304
hg197304
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14485841, essv14485853, essv14485852, essv14485845, essv14485847, essv14485844, essv14485842, essv14485849, essv14485843, essv14485850, essv14485851, essv14485848, essv14485846
SamplesHG01462, NA18881, NA20346, NA19443, HG03464, HG03114, HG01882, NA19455, HG03024, HG01866, NA19467, NA19472, HG03196
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629580
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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