A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630647



Internal ID6670781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104510391..104525740hg38UCSC Ensembl
Innerchr12:104510891..104525240hg38UCSC Ensembl
Outerchr12:104509391..104526740hg38UCSC Ensembl
chr12:104904169..104919518hg19UCSC Ensembl
Innerchr12:104904669..104919018hg19UCSC Ensembl
Outerchr12:104903169..104920518hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3815350
hg1915350
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14597253, essv14597251, essv14597252
SamplesHG03755, HG04023, HG03971
Known GenesCHST11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630647
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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