A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630725



Internal ID6670859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109746487..109750258hg38UCSC Ensembl
Innerchr12:109746540..109750205hg38UCSC Ensembl
Outerchr12:109746434..109750311hg38UCSC Ensembl
chr12:110184292..110188063hg19UCSC Ensembl
Innerchr12:110184345..110188010hg19UCSC Ensembl
Outerchr12:110184239..110188116hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg383772
hg193772
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14604020
SamplesHG03771
Known GenesFAM222A, FAM222A-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630725
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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