A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665619



Internal ID9931724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21203874..21208225hg38UCSC Ensembl
chr17:21107187..21111538hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg384352
hg194352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6059497, essv6180078, essv5687739, essv6474620, essv6597215, essv5521343, essv6223988
SamplesNA12843, HG00640, HG00369, HG01069, NA20524, HG01073, HG00734
Known GenesTMEM11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665619
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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