A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630979



Internal ID6671112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122701033..122714056hg38UCSC Ensembl
chr12:123185580..123198603hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3813024
hg1913024
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv308e214
Supporting Variantsessv14621449, essv14621451, essv14621452, essv14621453, essv14621450
SamplesHG01525, NA11831, HG02887, HG03625, HG00329
Known GenesHCAR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630979
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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