A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664434



Internal ID9583853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52256016..52258532hg38UCSC Ensembl
chr10:54015776..54018292hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg382517
hg192517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv140e199
Supporting Variantsessv5596861, essv6449928, essv6032868, essv5762887, essv6240313, essv6496714, essv5629937, essv6468028, essv5700581, essv5740025, essv5848703, essv5834368, essv5941675, essv5805462, essv5966296, essv6254838, essv6555590, essv6238811, essv5540151, essv5526192, essv6091945, essv5839342, essv6457396, essv5668914, essv5607654, essv6315996, essv5994156, essv5775401, essv6501144, essv5779647, essv5477334, essv6150432, essv6045330, essv6168209, essv5515236, essv6404719, essv5490983, essv6226784, essv6276384, essv5862086, essv5806974, essv5739888
SamplesNA11830, NA12286, NA11995, NA12414, NA12843, NA11931, NA12751, NA12004, NA12750, NA12399, NA12155, NA12341, NA07346, NA12348, NA07347, NA12283, NA12287, NA12761, NA12282, NA06984, NA12889, NA12748, NA11993, NA11831, NA10847, NA12829, NA12249, NA06989, NA12827, NA12043, NA12716, NA11881, NA12775, NA12272, NA12046, NA12763, NA12347, NA11892, NA12890, NA07000, NA12154, NA12776
Known GenesPRKG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664434
Frequency
Sample Size1151
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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