A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640332



Internal ID7027107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29957567..30010423hg38UCSC Ensembl
Innerchr17:29958067..30009923hg38UCSC Ensembl
Outerchr17:29956567..30011423hg38UCSC Ensembl
chr17:28284585..28337441hg19UCSC Ensembl
Innerchr17:28285085..28336941hg19UCSC Ensembl
Outerchr17:28283585..28338441hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3852857
hg1952857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15657258
SamplesHG02769
Known GenesEFCAB5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640332
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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