A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640481



Internal ID7027256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36781295..36789487hg38UCSC Ensembl
Innerchr17:36781303..36789479hg38UCSC Ensembl
Outerchr17:36781287..36789495hg38UCSC Ensembl
chr17:35138473..35146761hg19UCSC Ensembl
Innerchr17:35138481..35146753hg19UCSC Ensembl
Outerchr17:35138465..35146769hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg388193
hg198289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15666483, essv15666481, essv15666479, essv15666477, essv15666473, essv15666474, essv15666472, essv15666480, essv15666475, essv15666476, essv15666482, essv15666478, essv15666471
SamplesHG02610, HG01079, HG03224, NA19159, NA18864, HG01058, HG01049, HG01447, HG02611, HG02314, NA19474, HG01089, HG02629
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640481
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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