A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588296



Internal ID6975712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:190228369..190232632hg38UCSC Ensembl
Innerchr1:190228381..190232621hg38UCSC Ensembl
Outerchr1:190228358..190232644hg38UCSC Ensembl
chr1:190197499..190201762hg19UCSC Ensembl
Innerchr1:190197511..190201751hg19UCSC Ensembl
Outerchr1:190197488..190201774hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg384264
hg194264
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10229577, essv10229576, essv10229579, essv10229578, essv10229575
SamplesNA19025, NA19462, NA19017, NA19310, NA19475
Known GenesBRINP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588296
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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