A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640609



Internal ID7027384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42549950..42556643hg38UCSC Ensembl
chr17:40701968..40708661hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg386694
hg196694
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15679083, essv15679086, essv15679087, essv15679085, essv15679084, essv15679081, essv15679082
SamplesHG01945, NA20812, HG00675, HG01047, HG02586, HG01935, HG02699
Known GenesHSD17B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640609
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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