A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657492



Internal ID9923597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17891907..17894913hg38UCSC Ensembl
Outerchr8:17891536..17895283hg38UCSC Ensembl
Innerchr8:17749416..17752422hg19UCSC Ensembl
Outerchr8:17749045..17752792hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg383748
hg193748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5515833, essv5535148, essv5479990, essv5594081, essv6498898, essv6074290, essv5860732, essv6128961, essv6203299, essv6026925, essv6241336, essv6259154, essv6220561, essv6282544, essv6145932, essv5493097, essv6157823, essv6269917, essv5882287, essv6495230, essv5426680, essv6077294, essv5664564, essv6004463, essv5975589, essv6417537, essv5978450, essv5459496, essv6350396, essv6435204
SamplesNA19190, NA19098, NA18870, NA19107, NA18519, NA19119, NA18498, NA19130, NA18874, NA18868, NA19137, NA19235, NA19189, NA18520, NA19209, NA18908, NA19247, NA18516, NA18910, NA18907, NA18499, NA18909, NA19256, NA19147, NA18501, NA19248, NA19093, NA18873, NA19129, NA18487
Known GenesFGL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657492
Frequency
Sample Size1151
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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