A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10512210



Internal ID3095872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55407110..55409052hg38UCSC Ensembl
Innerchr2:55407111..55409052hg38UCSC Ensembl
Outerchr2:55407110..55409053hg38UCSC Ensembl
chr2:55634246..55636188hg19UCSC Ensembl
Innerchr2:55634247..55636188hg19UCSC Ensembl
Outerchr2:55634246..55636189hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381943
hg191943
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590855
Supporting Variants
SamplesHG02722
Known GenesCCDC88A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10512210
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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