A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593373



Internal ID6980697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172692946..172704287hg38UCSC Ensembl
Innerchr2:172692946..172704287hg38UCSC Ensembl
Outerchr2:172692864..172704367hg38UCSC Ensembl
chr2:173557674..173569015hg19UCSC Ensembl
Innerchr2:173557674..173569015hg19UCSC Ensembl
Outerchr2:173557592..173569095hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3811342
hg1911342
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10762757
SamplesHG02337
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593373
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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