A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662959



Internal ID9929064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61600300..61602873hg38UCSC Ensembl
chr8:62512859..62515432hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg382574
hg192574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5598498, essv5516824, essv6046042, essv6407300, essv6140116, essv6473628, essv6519456, essv6137581, essv5472674, essv5658258, essv5779276, essv6065361, essv5517709, essv5704928, essv6161581, essv6236823, essv5856527, essv6555611, essv6124249, essv5585225, essv5713772, essv5844040, essv6015782, essv5522550, essv6552506, essv5521204, essv6445840, essv6215502, essv6307184, essv6237762, essv5667352
SamplesHG01389, NA18917, NA18486, NA19355, NA19377, NA18519, HG01488, NA19198, NA19131, NA19130, NA18874, NA19901, HG01198, NA18908, NA19210, NA19707, NA18516, NA18907, NA18912, NA19257, NA19401, NA18909, NA19256, NA19434, NA19444, NA19380, NA19438, NA19223, NA19713, NA19213, NA19129
Known GenesASPH
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662959
Frequency
Sample Size1151
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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