A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15742737



Internal ID5744553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76283633..76284576hg38UCSC Ensembl
Innerchr17:76283633..76284576hg38UCSC Ensembl
Outerchr17:76283154..76284993hg38UCSC Ensembl
chr17:74279714..74280657hg19UCSC Ensembl
Innerchr17:74279714..74280657hg19UCSC Ensembl
Outerchr17:74279235..74281074hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38944
hg19944
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641281
Supporting Variants
SamplesHG02645
Known GenesQRICH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15742737
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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