A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640112



Internal ID7026890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:16670157..16686323hg38UCSC Ensembl
Innerchr17:16670657..16685823hg38UCSC Ensembl
Outerchr17:16669157..16687323hg38UCSC Ensembl
chr17:16573471..16589637hg19UCSC Ensembl
Innerchr17:16573971..16589137hg19UCSC Ensembl
Outerchr17:16572471..16590637hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3816167
hg1916167
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15630727, essv15630740, essv15630730, essv15630735, essv15630742, essv15630738, essv15630732, essv15630739, essv15630731, essv15630729, essv15630723, essv15630728, essv15630736, essv15630726, essv15630722, essv15630733, essv15630741, essv15630725, essv15630743, essv15630724, essv15630734, essv15630737, essv15630744
SamplesHG01173, NA20531, NA12045, HG02691, HG03705, HG02690, NA12275, NA20812, HG03624, HG02502, HG00260, NA20885, HG01323, HG04177, HG04006, NA19072, HG01113, NA12763, NA19779, HG04014, HG01468, HG03867, HG03698
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640112
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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