A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15621595



Internal ID4622842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:14352963..14355111hg38UCSC Ensembl
Innerchr17:14352978..14355097hg38UCSC Ensembl
Outerchr17:14352949..14355126hg38UCSC Ensembl
chr17:14256280..14258428hg19UCSC Ensembl
Innerchr17:14256295..14258414hg19UCSC Ensembl
Outerchr17:14256266..14258443hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg382149
hg192149
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640030
Supporting Variants
SamplesHG04156
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15621595
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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