A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670347



Internal ID9589766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132259957..132260038hg38UCSC Ensembl
chr12:132836496..132836588hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3882
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6052832, essv6542152, essv6442668, essv5445217, essv5664723, essv6185592, essv6148872, essv5502445, essv5477649, essv6466626, essv6494201, essv5723148, essv6232132, essv6413136, essv5787928, essv5499005, essv5512204, essv6508862, essv5779454, essv5982309, essv6120037, essv5595746, essv5523679, essv5998269, essv5697386, essv6132463, essv5933614
SamplesHG00309, HG00257, HG00344, NA20506, NA18612, HG00310, NA18570, HG00657, HG00375, HG00280, HG00335, HG01107, NA18566, NA18623, HG00338, NA18609, HG00284, NA12144, NA18572, HG01073, HG00282, HG01069, HG01070, HG01060, HG00324, HG00137, HG00271
Known GenesGALNT9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670347
Frequency
Sample Size1151
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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