A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640708



Internal ID6680794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47920089..47921482hg38UCSC Ensembl
Innerchr17:47920139..47921432hg38UCSC Ensembl
Outerchr17:47920021..47921550hg38UCSC Ensembl
chr17:45997455..45998848hg19UCSC Ensembl
Innerchr17:45997505..45998798hg19UCSC Ensembl
Outerchr17:45997387..45998916hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg381394
hg191394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15687990, essv15687989
SamplesHG03898, HG03955
Known GenesLOC100506325, SP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640708
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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