A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590022



Internal ID6977350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:21636327..21638536hg38UCSC Ensembl
Innerchr2:21636331..21638532hg38UCSC Ensembl
Outerchr2:21636323..21638540hg38UCSC Ensembl
chr2:21859199..21861408hg19UCSC Ensembl
Innerchr2:21859203..21861404hg19UCSC Ensembl
Outerchr2:21859195..21861412hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg382210
hg192210
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10429824, essv10429830, essv10429825, essv10429827, essv10429826, essv10429829, essv10429828
SamplesHG02337, NA19384, NA19922, NA19025, NA19318, NA19380, NA19467
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590022
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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