A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640972



Internal ID7027746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62399068..62418381hg38UCSC Ensembl
Innerchr17:62399068..62418381hg38UCSC Ensembl
Outerchr17:62398568..62418881hg38UCSC Ensembl
chr17:60476429..60495742hg19UCSC Ensembl
Innerchr17:60476429..60495742hg19UCSC Ensembl
Outerchr17:60475929..60496242hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3819314
hg1919314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15717866
SamplesHG00536
Known GenesEFCAB3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640972
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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