A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10429829



Internal ID431645
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590022
Supporting Variants
SamplesNA19467
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10429829
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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