A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640314



Internal ID7027089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28846638..28852629hg38UCSC Ensembl
Innerchr17:28846688..28852579hg38UCSC Ensembl
Outerchr17:28846496..28852771hg38UCSC Ensembl
chr17:27173656..27179647hg19UCSC Ensembl
Innerchr17:27173706..27179597hg19UCSC Ensembl
Outerchr17:27173514..27179789hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg385992
hg195992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15656935, essv15656936, essv15656946, essv15656942, essv15656939, essv15656940, essv15656941, essv15656945, essv15656934, essv15656931, essv15656944, essv15656933, essv15656932, essv15656943, essv15656938, essv15656937
SamplesHG01140, HG01351, HG00173, HG00139, HG02793, HG00360, HG04195, NA19788, HG01613, HG00140, HG00357, NA20797, NA06986, HG03703, HG03789, HG00288
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640314
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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