A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15764830



Internal ID5766646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81987985..81989044hg38UCSC Ensembl
Innerchr17:81988041..81988989hg38UCSC Ensembl
Outerchr17:81987930..81989100hg38UCSC Ensembl
chr17:79945861..79946920hg19UCSC Ensembl
Innerchr17:79945917..79946865hg19UCSC Ensembl
Outerchr17:79945806..79946976hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381060
hg191060
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641410
Supporting Variants
SamplesNA18597
Known GenesASPSCR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15764830
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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