A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588183



Internal ID6975606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:188040414..188044514hg38UCSC Ensembl
Innerchr1:188040416..188044512hg38UCSC Ensembl
Outerchr1:188040412..188044516hg38UCSC Ensembl
chr1:188009545..188013645hg19UCSC Ensembl
Innerchr1:188009547..188013643hg19UCSC Ensembl
Outerchr1:188009543..188013647hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg384101
hg194101
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10219305, essv10219303, essv10219304
SamplesHG03773, NA20863, NA21094
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588183
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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