A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657159



Internal ID9923264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:27699134..27699693hg38UCSC Ensembl
chr13:28273271..28273830hg19UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg38560
hg19560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5727157, essv6352863, essv6310235, essv5665989, essv6454607, essv5997833, essv5972859, essv6144712, essv5761895, essv5665221, essv6307432, essv6214107, essv6582857, essv5969919, essv6387639, essv5813382, essv5436588, essv6177766, essv6580389, essv6210865, essv5581549, essv5683643, essv6160885, essv6232405, essv6144807, essv5937913, essv6285712, essv6335544, essv6350984, essv6348616, essv6455903, essv5994647, essv5546372, essv5398906, essv6465028, essv5733755, essv5879025, essv5713124, essv5789725, essv5628543, essv5988868, essv5916478, essv6588322
SamplesHG00403, NA19701, HG00542, NA18947, HG00249, NA18599, HG00315, NA18603, NA19684, NA20507, HG00138, NA18519, HG00251, NA18982, NA20795, NA18964, HG00277, HG00335, HG01072, NA19731, NA11994, HG00422, HG01176, NA19725, NA19921, NA20753, HG00475, HG00635, HG01102, NA11919, NA12249, NA18553, NA20765, NA19401, NA18952, NA19679, NA18610, NA19438, NA20786, NA18552, NA18983, NA07056, NA18989
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657159
Frequency
Sample Size1151
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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