A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593317



Internal ID6980641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168730489..168731689hg38UCSC Ensembl
Innerchr2:168730489..168731689hg38UCSC Ensembl
Outerchr2:168730231..168732043hg38UCSC Ensembl
chr2:169586999..169588199hg19UCSC Ensembl
Innerchr2:169586999..169588199hg19UCSC Ensembl
Outerchr2:169586741..169588553hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10753969, essv10753985, essv10753975, essv10753967, essv10753970, essv10753994, essv10754004, essv10753974, essv10753983, essv10753987, essv10754000, essv10753997, essv10753976, essv10753981, essv10753977, essv10753978, essv10753988, essv10753979, essv10753968, essv10753986, essv10753998, essv10753999, essv10753993, essv10753971, essv10753984, essv10754002, essv10753996, essv10753991, essv10753990, essv10753989, essv10753980, essv10754001, essv10753992, essv10753982, essv10754003, essv10753995, essv10753973, essv10753972
SamplesNA19055, HG00729, HG00341, HG01350, HG00589, HG00610, NA19062, HG02374, NA18582, NA19079, HG01046, NA19075, HG02180, HG01550, HG02402, HG00132, HG02390, HG01077, HG01029, HG00619, HG01092, NA19000, HG00613, NA18961, HG00734, HG00607, NA18629, NA20544, NA18591, HG02401, HG01868, NA18994, HG01872, HG00728, NA19011, NA20585, HG01805, NA18622
Known GenesCERS6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593317
Frequency
Sample Size2504
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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