A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15680799



Internal ID5682615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45281625..45282237hg38UCSC Ensembl
Innerchr17:45281640..45282223hg38UCSC Ensembl
Outerchr17:45281611..45282252hg38UCSC Ensembl
chr17:43358992..43359604hg19UCSC Ensembl
Innerchr17:43359007..43359590hg19UCSC Ensembl
Outerchr17:43358978..43359619hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38613
hg19613
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640660
Supporting Variants
SamplesNA19445
Known GenesMAP3K14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15680799
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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