A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14570870



Internal ID2906860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93315183..93318414hg38UCSC Ensembl
Innerchr12:93315210..93318387hg38UCSC Ensembl
Outerchr12:93315156..93318441hg38UCSC Ensembl
chr12:93708959..93712190hg19UCSC Ensembl
Innerchr12:93708986..93712163hg19UCSC Ensembl
Outerchr12:93708932..93712217hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg383232
hg193232
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630394
Supporting Variants
SamplesHG02574
Known GenesLOC643339
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14570870
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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