A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14618472



Internal ID3707217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119814869..119815538hg38UCSC Ensembl
Innerchr12:119814924..119815483hg38UCSC Ensembl
Outerchr12:119814814..119815593hg38UCSC Ensembl
chr12:120252673..120253342hg19UCSC Ensembl
Innerchr12:120252728..120253287hg19UCSC Ensembl
Outerchr12:120252618..120253397hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38670
hg19670
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630913
Supporting Variants
SamplesHG03304
Known GenesCIT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14618472
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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