A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14603455



Internal ID4878809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108005699..108091304hg38UCSC Ensembl
Innerchr12:108005708..108091296hg38UCSC Ensembl
Outerchr12:108005691..108091313hg38UCSC Ensembl
chr12:108399476..108485081hg19UCSC Ensembl
Innerchr12:108399485..108485073hg19UCSC Ensembl
Outerchr12:108399468..108485090hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3885606
hg1985606
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630699
Supporting Variants
SamplesNA12348
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14603455
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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