A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640323



Internal ID7027098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29266156..29267099hg38UCSC Ensembl
Innerchr17:29266169..29267087hg38UCSC Ensembl
Outerchr17:29266144..29267112hg38UCSC Ensembl
chr17:27593174..27594117hg19UCSC Ensembl
Innerchr17:27593187..27594105hg19UCSC Ensembl
Outerchr17:27593162..27594130hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38944
hg19944
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15657000, essv15656989, essv15656999, essv15657001, essv15656982, essv15657002, essv15656998, essv15656990, essv15656986, essv15656994, essv15656995, essv15656996, essv15656993, essv15657004, essv15656983, essv15656988, essv15656981, essv15656987, essv15657003, essv15656992, essv15656984, essv15656985, essv15656991, essv15656997
SamplesNA12045, HG00177, HG01051, HG01513, HG01500, HG01702, NA11992, HG00158, HG00236, NA20535, HG01501, NA19670, HG02014, HG00373, HG00240, HG01148, NA12272, NA20804, NA20530, HG01631, NA20807, NA19770, NA20826, HG01431
Known GenesNUFIP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640323
Frequency
Sample Size2504
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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