A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658759



Internal ID9924864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:29266294..29267108hg38UCSC Ensembl
Outerchr17:29266137..29267261hg38UCSC Ensembl
Innerchr17:27593312..27594126hg19UCSC Ensembl
Outerchr17:27593155..27594279hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381125
hg191125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5882215, essv5760673, essv5936207, essv6321465, essv6321907, essv5460319, essv5807324, essv6596067, essv5918623, essv6088870, essv5795029
SamplesNA12045, HG00177, HG01051, NA11992, HG00158, HG00236, HG00373, HG01148, NA12272, NA20530, NA20826
Known GenesNUFIP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658759
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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