A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10747002



Internal ID748818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165158187..165160241hg38UCSC Ensembl
Innerchr2:165158187..165160241hg38UCSC Ensembl
Outerchr2:165158187..165160241hg38UCSC Ensembl
chr2:166014697..166016751hg19UCSC Ensembl
Innerchr2:166014697..166016751hg19UCSC Ensembl
Outerchr2:166014697..166016751hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg382055
hg192055
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593232
Supporting Variants
SamplesNA20538
Known GenesSCN3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10747002
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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