A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640619



Internal ID7027394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43011330..43012501hg38UCSC Ensembl
Innerchr17:43011330..43012501hg38UCSC Ensembl
Outerchr17:43011092..43012764hg38UCSC Ensembl
chr17:41163347..41164518hg19UCSC Ensembl
Innerchr17:41163347..41164518hg19UCSC Ensembl
Outerchr17:41163109..41164781hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381172
hg191172
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15679166, essv15679173, essv15679170, essv15679171, essv15679172, essv15679167, essv15679169, essv15679168, essv15679174
SamplesHG00559, NA18969, NA19746, HG00674, HG02067, NA18981, HG00479, NA18941, HG00662
Known GenesIFI35
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640619
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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