A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641425



Internal ID7028199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82449607..82450555hg38UCSC Ensembl
Innerchr17:82449638..82450525hg38UCSC Ensembl
Outerchr17:82449577..82450586hg38UCSC Ensembl
chr17:80407483..80408431hg19UCSC Ensembl
Innerchr17:80407514..80408401hg19UCSC Ensembl
Outerchr17:80407453..80408462hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38949
hg19949
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15767088, essv15767090, essv15767086, essv15767087, essv15767089
SamplesNA18915, HG02537, NA19118, NA19113, HG01896
Known GenesC17orf62
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641425
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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