A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628924



Internal ID6669064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27008076..27009457hg38UCSC Ensembl
Innerchr12:27008076..27009457hg38UCSC Ensembl
Outerchr12:27007737..27009798hg38UCSC Ensembl
chr12:27161009..27162390hg19UCSC Ensembl
Innerchr12:27161009..27162390hg19UCSC Ensembl
Outerchr12:27160670..27162731hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg381382
hg191382
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14417088, essv14417095, essv14417083, essv14417082, essv14417074, essv14417071, essv14417079, essv14417090, essv14417091, essv14417073, essv14417085, essv14417076, essv14417089, essv14417093, essv14417092, essv14417077, essv14417097, essv14417075, essv14417087, essv14417080, essv14417072, essv14417098, essv14417096, essv14417078, essv14417094, essv14417084, essv14417081, essv14417086
SamplesHG00864, NA18951, HG01852, HG00956, HG00705, HG01800, NA18570, NA18972, NA18947, HG02375, NA18994, HG01029, HG00592, NA18957, HG01851, HG02373, HG01795, NA19055, HG00766, HG00599, HG00674, HG02406, HG00595, HG02351, NA18571, HG02409, HG00625, HG00476
Known GenesTM7SF3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628924
Frequency
Sample Size2504
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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