A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640700



Internal ID6680786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47351287..47441366hg38UCSC Ensembl
Innerchr17:47351288..47441365hg38UCSC Ensembl
Outerchr17:47351286..47441367hg38UCSC Ensembl
chr17:45428653..45518732hg19UCSC Ensembl
Innerchr17:45428654..45518731hg19UCSC Ensembl
Outerchr17:45428652..45518733hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3890080
hg1990080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv578e214
Supporting Variantsessv15687910, essv15687908, essv15687909
SamplesHG02481, HG02134, HG02121
Known GenesEFCAB13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640700
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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