A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669810



Internal ID9935915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:55094132..55098738hg38UCSC Ensembl
Outerchr12:55093761..55099108hg38UCSC Ensembl
Innerchr12:55487916..55492522hg19UCSC Ensembl
Outerchr12:55487545..55492892hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg385348
hg195348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6009029, essv5778876, essv6336784, essv5428412, essv5710225, essv5963323, essv6013817, essv6106834, essv5990172, essv6112141, essv5569620, essv5935371, essv5412346, essv5816190, essv5797442, essv6069034, essv6250344, essv5722422, essv5910943, essv5923195, essv6186594, essv5748961, essv6012504, essv5606172, essv6438539, essv5544528, essv5643165, essv5412151, essv5989750, essv5795156, essv5416345, essv6480206, essv6028981, essv5771940, essv5699629, essv6071920, essv5702883, essv6139525, essv5730042, essv6495351, essv5918465
SamplesHG00542, HG00442, HG00536, HG00671, HG00524, HG00449, HG00448, HG00512, HG00683, HG00422, HG00427, HG00419, HG00464, HG00543, HG00443, HG00428, HG00701, HG00657, HG00475, HG00436, HG00556, HG00584, HG00533, HG00500, HG00479, HG00684, HG00613, HG00525, HG00476, HG00473, HG00662, HG00418, HG00620, HG00707, HG00672, HG00513, HG00478, HG00421, HG00472, HG00437, HG00581
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669810
Frequency
Sample Size1151
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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