A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640605



Internal ID7027380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42378008..42384151hg38UCSC Ensembl
Innerchr17:42378158..42384001hg38UCSC Ensembl
Outerchr17:42377858..42384301hg38UCSC Ensembl
chr17:40530026..40536169hg19UCSC Ensembl
Innerchr17:40530176..40536019hg19UCSC Ensembl
Outerchr17:40529876..40536319hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg386144
hg196144
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15679064
SamplesHG00243
Known GenesSTAT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640605
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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