A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669725



Internal ID9935830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46237377..46238290hg38UCSC Ensembl
chr12:46631160..46632073hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38914
hg19914
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5831998, essv6370201, essv5582087, essv6336344, essv5823468, essv6258766, essv6184916, essv5701543, essv6337387, essv6572999, essv6475694, essv5511994
SamplesNA18502, HG01188, HG00736, NA19313, NA19372, NA19471, NA19239, NA18516, NA19436, NA19240, NA19439, NA19463
Known GenesSLC38A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669725
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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