A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640313



Internal ID7027088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28801274..28804873hg38UCSC Ensembl
Innerchr17:28801317..28804831hg38UCSC Ensembl
Outerchr17:28801232..28804916hg38UCSC Ensembl
chr17:27128292..27131891hg19UCSC Ensembl
Innerchr17:27128335..27131849hg19UCSC Ensembl
Outerchr17:27128250..27131934hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15656930, essv15656927, essv15656929, essv15656928
SamplesHG03074, NA19114, NA19095, HG02580
Known GenesFAM222B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640313
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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