A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14587077



Internal ID4588893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99749693..99763823hg38UCSC Ensembl
Innerchr12:99749693..99763823hg38UCSC Ensembl
Outerchr12:99749193..99764323hg38UCSC Ensembl
chr12:100143471..100157601hg19UCSC Ensembl
Innerchr12:100143471..100157601hg19UCSC Ensembl
Outerchr12:100142971..100158101hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3814131
hg1914131
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630539
Supporting Variants
SamplesNA21111
Known GenesANKS1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14587077
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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