A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14565338



Internal ID2887319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88226526..88233928hg38UCSC Ensembl
Innerchr12:88226529..88233925hg38UCSC Ensembl
Outerchr12:88226523..88233931hg38UCSC Ensembl
chr12:88620303..88627705hg19UCSC Ensembl
Innerchr12:88620306..88627702hg19UCSC Ensembl
Outerchr12:88620300..88627708hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg387403
hg197403
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630299
Supporting Variants
SamplesHG02561
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14565338
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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