A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590397



Internal ID6977726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:36608954..36613587hg38UCSC Ensembl
Innerchr2:36608954..36613587hg38UCSC Ensembl
Outerchr2:36608859..36613664hg38UCSC Ensembl
chr2:36836097..36840730hg19UCSC Ensembl
Innerchr2:36836097..36840730hg19UCSC Ensembl
Outerchr2:36836002..36840807hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg384634
hg194634
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10466454, essv10466455, essv10466457, essv10466456
SamplesHG02890, NA19378, NA19129, NA18522
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590397
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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