A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589316



Internal ID6976644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240592950..240593471hg38UCSC Ensembl
Innerchr1:240592950..240593471hg38UCSC Ensembl
Outerchr1:240592647..240593778hg38UCSC Ensembl
chr1:240756250..240756771hg19UCSC Ensembl
Innerchr1:240756250..240756771hg19UCSC Ensembl
Outerchr1:240755947..240757078hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38522
hg19522
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10353105, essv10353107, essv10353104, essv10353109, essv10353106, essv10353103, essv10353108
SamplesHG03247, HG02756, HG03457, NA19449, NA19099, NA18909, NA19185
Known GenesGREM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589316
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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