A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15682636



Internal ID5684455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45847682..45851860hg38UCSC Ensembl
Innerchr17:45847687..45851856hg38UCSC Ensembl
Outerchr17:45847678..45851865hg38UCSC Ensembl
chr17:43925048..43929226hg19UCSC Ensembl
Innerchr17:43925053..43929222hg19UCSC Ensembl
Outerchr17:43925044..43929231hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg384179
hg194179
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640674
Supporting Variants
SamplesNA06986
Known GenesMAPT-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15682636
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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