A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15648053



Internal ID1944632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19756103..19759435hg38UCSC Ensembl
Innerchr17:19756138..19759401hg38UCSC Ensembl
Outerchr17:19756069..19759470hg38UCSC Ensembl
chr17:19659416..19662748hg19UCSC Ensembl
Innerchr17:19659451..19662714hg19UCSC Ensembl
Outerchr17:19659382..19662783hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg383333
hg193333
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640182
Supporting Variants
SamplesHG01806
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15648053
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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