A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593310



Internal ID6980634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168411071..168441358hg38UCSC Ensembl
Innerchr2:168411112..168441317hg38UCSC Ensembl
Outerchr2:168411030..168441399hg38UCSC Ensembl
chr2:169267581..169297868hg19UCSC Ensembl
Innerchr2:169267622..169297827hg19UCSC Ensembl
Outerchr2:169267540..169297909hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3830288
hg1930288
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10753438, essv10753440, essv10753435, essv10753436, essv10753439, essv10753437, essv10753434
SamplesHG03100, HG03460, NA19118, HG02309, HG03064, NA19248, HG03401
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593310
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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