A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640903



Internal ID6680988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59251315..59252798hg38UCSC Ensembl
Innerchr17:59251328..59252786hg38UCSC Ensembl
Outerchr17:59251303..59252811hg38UCSC Ensembl
chr17:57328676..57330159hg19UCSC Ensembl
Innerchr17:57328689..57330147hg19UCSC Ensembl
Outerchr17:57328664..57330172hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg381484
hg191484
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15711324, essv15711326, essv15711327, essv15711325
SamplesHG01935, HG01954, HG02259, HG01923
Known GenesGDPD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640903
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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