A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640608



Internal ID7027383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42549950..42556643hg38UCSC Ensembl
chr17:40701968..40708661hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg386694
hg196694
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15679080, essv15679078, essv15679079, essv15679077
SamplesNA18565, HG03452, HG01851, HG01241
Known GenesHSD17B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640608
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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