A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15744096



Internal ID5504035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76606136..76611662hg38UCSC Ensembl
Innerchr17:76606636..76611162hg38UCSC Ensembl
Outerchr17:76605136..76612662hg38UCSC Ensembl
chr17:74602218..74607744hg19UCSC Ensembl
Innerchr17:74602718..74607244hg19UCSC Ensembl
Outerchr17:74601218..74608744hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg385527
hg195527
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641292
Supporting Variants
SamplesNA18986
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15744096
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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