A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658863



Internal ID9578282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242393238..242393458hg38UCSC Ensembl
chr1:242556540..242556760hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6213596, essv6419629, essv6587467, essv6406121, essv5406030, essv6413103, essv6166375, essv5406396, essv6089869, essv6407655, essv5625704, essv6031354, essv5819847, essv5801383, essv6048952, essv5984375, essv6071917, essv6476180, essv5927782, essv5728186, essv6153205, essv6299005, essv6131081, essv5781906, essv6361792, essv5475142, essv6144523, essv6525135, essv5991867, essv6240632, essv6074571, essv6131930, essv5969938, essv5605496, essv5451464, essv5415684, essv6138757, essv6490692, essv6275193, essv6357982, essv5658677, essv5464681, essv5436862, essv5979384, essv5682061, essv5618537, essv6289433, essv6427540, essv5800593, essv6427224, essv6297027, essv5615768
SamplesHG00323, HG00152, HG00252, NA20771, HG01052, NA19819, NA20510, HG00131, NA19469, HG01051, HG01082, HG00375, HG00148, HG00139, HG01204, NA19685, HG00335, NA11893, HG00253, NA18557, HG00179, HG01378, NA12155, HG01048, HG01061, HG00330, HG00284, HG00114, NA12751, HG00159, NA19380, NA19716, NA18522, HG00239, HG00249, NA20818, HG01080, HG00329, HG01060, NA19382, HG01137, NA12272, HG01095, HG01334, NA19403, HG00281, HG00142, NA19371, HG01125, HG01374, NA20502, NA19439
Known GenesPLD5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658863
Frequency
Sample Size1151
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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