A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591883



Internal ID6979211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106801839..106804290hg38UCSC Ensembl
Innerchr2:106801839..106804290hg38UCSC Ensembl
Outerchr2:106801603..106804541hg38UCSC Ensembl
chr2:107418295..107420746hg19UCSC Ensembl
Innerchr2:107418295..107420746hg19UCSC Ensembl
Outerchr2:107418059..107420997hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg382452
hg192452
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10608371, essv10608377, essv10608376, essv10608372, essv10608378, essv10608375, essv10608373, essv10608374
SamplesHG03687, NA20531, HG03679, HG03888, HG04019, HG03713, NA20872, HG04198
Known GenesST6GAL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591883
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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