A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv308e214



Internal ID18980483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122701033..122717012hg38UCSC Ensembl
chr12:123185580..123201559hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3815980
hg1915980
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3630981, esv3630979
SamplesHG02887, HG01525, NA11831, HG00329, HG03625
Known GenesHCAR2, HCAR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv308e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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