A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10470964



Internal ID6934792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40233843..40249292hg38UCSC Ensembl
Innerchr2:40233846..40249289hg38UCSC Ensembl
Outerchr2:40233840..40249295hg38UCSC Ensembl
chr2:40460983..40476432hg19UCSC Ensembl
Innerchr2:40460986..40476429hg19UCSC Ensembl
Outerchr2:40460980..40476435hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3815450
hg1915450
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590452
Supporting Variants
SamplesNA21124
Known GenesSLC8A1, SLC8A1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10470964
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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