A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10745726



Internal ID1067610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:164626681..164629918hg38UCSC Ensembl
Innerchr2:164626744..164629855hg38UCSC Ensembl
Outerchr2:164626618..164629981hg38UCSC Ensembl
chr2:165483191..165486428hg19UCSC Ensembl
Innerchr2:165483254..165486365hg19UCSC Ensembl
Outerchr2:165483128..165486491hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg383238
hg193238
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593221
Supporting Variants
SamplesHG00692
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10745726
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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