A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657070



Internal ID9576489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25287925..25335031hg38UCSC Ensembl
Outerchr1:25287554..25335401hg38UCSC Ensembl
Innerchr1:25614416..25661522hg19UCSC Ensembl
Outerchr1:25614045..25661892hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3847848
hg1947848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv32e199
Supporting Variantsessv5744942, essv5957246, essv6329597, essv6153327, essv5781886, essv6365166, essv5498098, essv5748186, essv6338898, essv6529936, essv6247955, essv5664684, essv6219390, essv5588083, essv5883258, essv6119452, essv6115368, essv6136327, essv6501217, essv5923693, essv6484697, essv5965044, essv6257185, essv6314354, essv5968893, essv6325562, essv6528595, essv6288603, essv6099114, essv5891436, essv5746192, essv6271409, essv5508055, essv5945702, essv5532671, essv5623022, essv5946293, essv5820385, essv6532501, essv6096006
SamplesHG00157, HG00152, HG00252, HG00100, HG00127, HG00131, HG00155, HG00261, HG00148, HG00122, HG00146, HG00253, HG00156, HG00158, HG00140, HG00096, HG00231, HG00150, HG00258, HG00243, HG00254, HG00133, HG00124, HG00108, HG00263, HG00239, HG00265, HG00249, HG00116, HG00236, HG01334, HG00138, HG00262, HG00118, HG00251, HG00119, HG00137, HG00143, HG00136, HG00126
Known GenesRHD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657070
Frequency
Sample Size1151
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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