A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10434774



Internal ID1011054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26736529..26743136hg38UCSC Ensembl
Innerchr2:26736556..26743109hg38UCSC Ensembl
Outerchr2:26736502..26743163hg38UCSC Ensembl
chr2:26959397..26966004hg19UCSC Ensembl
Innerchr2:26959424..26965977hg19UCSC Ensembl
Outerchr2:26959370..26966031hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg386608
hg196608
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590128
Supporting Variants
SamplesHG00632
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10434774
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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