A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641283



Internal ID6681368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76298768..76301888hg38UCSC Ensembl
Innerchr17:76298818..76301838hg38UCSC Ensembl
Outerchr17:76298582..76302074hg38UCSC Ensembl
chr17:74294849..74297969hg19UCSC Ensembl
Innerchr17:74294899..74297919hg19UCSC Ensembl
Outerchr17:74294663..74298155hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg383121
hg193121
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15743214, essv15743209, essv15743218, essv15743200, essv15743203, essv15743219, essv15743213, essv15743217, essv15743205, essv15743201, essv15743216, essv15743208, essv15743211, essv15743199, essv15743212, essv15743220, essv15743204, essv15743215, essv15743207, essv15743210, essv15743221, essv15743206, essv15743202
SamplesHG02725, NA21113, HG01055, HG02655, HG03234, NA21098, HG02694, HG03667, HG03624, NA21102, HG01242, HG02490, NA20852, HG03619, NA20858, NA21103, HG03875, HG02604, HG03989, HG03594, HG03814, HG03830, NA21105
Known GenesQRICH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641283
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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