A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15748500



Internal ID3050557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77925457..77927570hg38UCSC Ensembl
Innerchr17:77925607..77927420hg38UCSC Ensembl
Outerchr17:77925307..77927720hg38UCSC Ensembl
chr17:75921539..75923652hg19UCSC Ensembl
Innerchr17:75921689..75923502hg19UCSC Ensembl
Outerchr17:75921389..75923802hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382114
hg192114
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641320
Supporting Variants
SamplesHG02682
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15748500
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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