A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591913



Internal ID6632197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:107888082..108504967hg38UCSC Ensembl
Innerchr2:107888232..108504817hg38UCSC Ensembl
Outerchr2:107887932..108505117hg38UCSC Ensembl
chr2:108504538..109121423hg19UCSC Ensembl
Innerchr2:108504688..109121273hg19UCSC Ensembl
Outerchr2:108504388..109121573hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38616886
hg19616886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10609631
SamplesNA18870
Known GenesGCC2, RGPD4, SLC5A7, SULT1C2, SULT1C2P1, SULT1C3, SULT1C4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591913
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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