A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15740669



Internal ID5742485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75465751..75477877hg38UCSC Ensembl
chr17:73461832..73473958hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3812127
hg1912127
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641265
Supporting Variants
SamplesHG02805
Known GenesKIAA0195
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15740669
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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