A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10404371



Internal ID4565154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9569842..9572213hg38UCSC Ensembl
Innerchr2:9569892..9572163hg38UCSC Ensembl
Outerchr2:9569792..9572263hg38UCSC Ensembl
chr2:9709971..9712342hg19UCSC Ensembl
Innerchr2:9710021..9712292hg19UCSC Ensembl
Outerchr2:9709921..9712392hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg382372
hg192372
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589776
Supporting Variants
SamplesHG04063
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10404371
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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