A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15688049



Internal ID3193554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48082457..48084890hg38UCSC Ensembl
Innerchr17:48082465..48084883hg38UCSC Ensembl
Outerchr17:48082450..48084898hg38UCSC Ensembl
chr17:46159819..46162252hg19UCSC Ensembl
Innerchr17:46159827..46162245hg19UCSC Ensembl
Outerchr17:46159812..46162260hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg382434
hg192434
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640711
Supporting Variants
SamplesHG02807
Known GenesCBX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15688049
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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