A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639897



Internal ID7026675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9275608..9278185hg38UCSC Ensembl
Innerchr17:9275610..9278183hg38UCSC Ensembl
Outerchr17:9275606..9278187hg38UCSC Ensembl
chr17:9178925..9181502hg19UCSC Ensembl
Innerchr17:9178927..9181500hg19UCSC Ensembl
Outerchr17:9178923..9181504hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382578
hg192578
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15610221, essv15610219, essv15610226, essv15610232, essv15610225, essv15610224, essv15610227, essv15610220, essv15610230, essv15610228, essv15610223, essv15610231, essv15610218, essv15610233, essv15610222, essv15610229
SamplesHG02496, HG03111, HG02891, HG02325, HG03209, HG03114, HG02554, NA19449, HG03078, NA19031, NA19225, HG01988, HG02255, HG02799, NA20289, HG03439
Known GenesSTX8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639897
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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