A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628528



Internal ID6668671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10157803..10176482hg38UCSC Ensembl
Innerchr12:10157846..10176440hg38UCSC Ensembl
Outerchr12:10157761..10176525hg38UCSC Ensembl
chr12:10310402..10329081hg19UCSC Ensembl
Innerchr12:10310445..10329039hg19UCSC Ensembl
Outerchr12:10310360..10329124hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3818680
hg1918680
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14373946
SamplesNA20320
Known GenesOLR1, TMEM52B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628528
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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