A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640489



Internal ID7027264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37380801..37381898hg38UCSC Ensembl
Innerchr17:37380807..37381892hg38UCSC Ensembl
Outerchr17:37380795..37381904hg38UCSC Ensembl
chr17:35737739..35738836hg19UCSC Ensembl
Innerchr17:35737745..35738830hg19UCSC Ensembl
Outerchr17:35737733..35738842hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381098
hg191098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15666741, essv15666736, essv15666730, essv15666723, essv15666735, essv15666732, essv15666734, essv15666712, essv15666738, essv15666714, essv15666731, essv15666727, essv15666718, essv15666719, essv15666737, essv15666717, essv15666733, essv15666716, essv15666725, essv15666728, essv15666724, essv15666740, essv15666721, essv15666722, essv15666729, essv15666720, essv15666715, essv15666739, essv15666713, essv15666726
SamplesHG03121, HG01885, NA12414, HG03297, NA19098, HG03095, NA18519, HG03099, HG02810, HG03105, HG03520, HG02634, HG03267, NA18934, NA19184, HG03294, HG03472, NA19114, HG02332, HG02568, HG02330, HG03367, HG03127, NA19428, HG02128, HG03025, NA19102, HG03410, HG03401, HG01883
Known GenesACACA, C17orf78
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640489
Frequency
Sample Size2504
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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