A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658098



Internal ID9924203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:85513776..85515967hg38UCSC Ensembl
chr15:86057007..86059198hg19UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg382192
hg192192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv465e199
Supporting Variantsessv6323529, essv6264184, essv6104596, essv5657395, essv6588329, essv6359062, essv5713562, essv5461453, essv6300814, essv5549348, essv5916950, essv6436918, essv6344024, essv5667747, essv5500389, essv6417959, essv6009444, essv6581779, essv5879488, essv6007503, essv6308907, essv6305282, essv6094611, essv5598849, essv6157567, essv5594325, essv6583628, essv5669937, essv6084032, essv5980628, essv6370309, essv5402410, essv6583565, essv5662682, essv6335014, essv5851198, essv6169516, essv6092609, essv5499864, essv5798630, essv6203228, essv5571698, essv5810548, essv6444293, essv5757779, essv6069175, essv6382128, essv6029642, essv6497381, essv6340866, essv6340135, essv5787230, essv5745765, essv6591724, essv5508697, essv5637575, essv6349447, essv5954994, essv5896752, essv6012177, essv6512896, essv5676434, essv6259613, essv5958869, essv5794933, essv6289949, essv5624094
SamplesHG00143, NA19055, NA18980, HG01079, HG01188, HG00233, HG00244, NA18959, NA19067, HG00138, HG00127, HG01168, NA19062, NA19054, NA18949, HG00158, HG00139, HG01069, HG01080, HG00106, NA19075, NA19002, HG00118, HG00159, HG01048, NA18973, HG00253, NA19007, HG00137, HG00133, HG01187, HG01171, HG00245, NA18976, NA18948, NA18981, HG01047, HG01102, NA19084, HG01197, HG01101, NA18963, HG00141, HG01107, NA18953, HG00124, HG00254, HG00119, HG01190, HG00734, NA18941, HG00638, HG00237, HG00116, HG00256, HG00125, NA18987, HG00112, HG00131, NA18972, NA18989, NA19004, NA18968, NA19065, HG01097, HG00554, NA19074
Known GenesAKAP13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658098
Frequency
Sample Size1151
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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