A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14535426



Internal ID802372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:74004415..74059527hg38UCSC Ensembl
Innerchr12:74004415..74059527hg38UCSC Ensembl
Outerchr12:74003915..74060027hg38UCSC Ensembl
chr12:74398195..74453307hg19UCSC Ensembl
Innerchr12:74398195..74453307hg19UCSC Ensembl
Outerchr12:74397695..74453807hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3855113
hg1955113
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629977
Supporting Variants
SamplesHG00380
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14535426
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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