A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593381



Internal ID6980705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173294954..173343856hg38UCSC Ensembl
Innerchr2:173294954..173343856hg38UCSC Ensembl
Outerchr2:173294454..173344356hg38UCSC Ensembl
chr2:174159682..174208584hg19UCSC Ensembl
Innerchr2:174159682..174208584hg19UCSC Ensembl
Outerchr2:174159182..174209084hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3848903
hg1948903
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10762912
SamplesHG00273
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593381
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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