A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640841



Internal ID6680927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55396685..55397237hg38UCSC Ensembl
Innerchr17:55396729..55397193hg38UCSC Ensembl
Outerchr17:55396641..55397281hg38UCSC Ensembl
chr17:53474046..53474598hg19UCSC Ensembl
Innerchr17:53474090..53474554hg19UCSC Ensembl
Outerchr17:53474002..53474642hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38553
hg19553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15702892, essv15702893, essv15702895, essv15702894, essv15702891
SamplesHG00766, HG00422, HG01164, HG02391, HG00472
Known GenesMMD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640841
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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