A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14373896



Internal ID4375712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10088627..10091519hg38UCSC Ensembl
Innerchr12:10088633..10091513hg38UCSC Ensembl
Outerchr12:10088621..10091525hg38UCSC Ensembl
chr12:10241226..10244118hg19UCSC Ensembl
Innerchr12:10241232..10244112hg19UCSC Ensembl
Outerchr12:10241220..10244124hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg382893
hg192893
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628524
Supporting Variants
SamplesHG01608
Known GenesCLEC1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14373896
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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