A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15743204



Internal ID5745020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76298768..76301888hg38UCSC Ensembl
Innerchr17:76298818..76301838hg38UCSC Ensembl
Outerchr17:76298582..76302074hg38UCSC Ensembl
chr17:74294849..74297969hg19UCSC Ensembl
Innerchr17:74294899..74297919hg19UCSC Ensembl
Outerchr17:74294663..74298155hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg383121
hg193121
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641283
Supporting Variants
SamplesHG02694
Known GenesQRICH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15743204
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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