A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593780



Internal ID6981103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:192106765..192116435hg38UCSC Ensembl
Innerchr2:192106765..192116435hg38UCSC Ensembl
Outerchr2:192106265..192116935hg38UCSC Ensembl
chr2:192971491..192981161hg19UCSC Ensembl
Innerchr2:192971491..192981161hg19UCSC Ensembl
Outerchr2:192970991..192981661hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg389671
hg199671
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10805159, essv10805168, essv10805167, essv10805163, essv10805165, essv10805160, essv10805169, essv10805166, essv10805162, essv10805164, essv10805170, essv10805161
SamplesHG02002, HG01971, HG02299, NA19007, HG01921, HG02292, HG01977, HG01917, NA18983, HG01920, HG01578, HG01976
Known GenesTMEFF2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593780
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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