A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15663996



Internal ID5324848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:34655022..34656474hg38UCSC Ensembl
Innerchr17:34655022..34656474hg38UCSC Ensembl
Outerchr17:34654901..34656521hg38UCSC Ensembl
chr17:32982041..32983493hg19UCSC Ensembl
Innerchr17:32982041..32983493hg19UCSC Ensembl
Outerchr17:32981920..32983540hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381453
hg191453
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640428
Supporting Variants
SamplesNA18868
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15663996
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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