A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14533739



Internal ID1191203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:73399449..73424828hg38UCSC Ensembl
Innerchr12:73399949..73424328hg38UCSC Ensembl
Outerchr12:73398449..73425828hg38UCSC Ensembl
chr12:73793229..73818608hg19UCSC Ensembl
Innerchr12:73793729..73818108hg19UCSC Ensembl
Outerchr12:73792229..73819608hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3825380
hg1925380
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629950
Supporting Variants
SamplesHG01066
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14533739
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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