A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15711256



Internal ID5713072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59032173..59041164hg38UCSC Ensembl
Innerchr17:59032673..59040664hg38UCSC Ensembl
Outerchr17:59031173..59042164hg38UCSC Ensembl
chr17:57109534..57118525hg19UCSC Ensembl
Innerchr17:57110034..57118025hg19UCSC Ensembl
Outerchr17:57108534..57119525hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg388992
hg198992
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640901
Supporting Variants
SamplesNA18942
Known GenesTRIM37
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15711256
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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