A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10489595



Internal ID6107232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46911622..46913607hg38UCSC Ensembl
Innerchr2:46911622..46913607hg38UCSC Ensembl
Outerchr2:46911431..46913819hg38UCSC Ensembl
chr2:47138761..47140746hg19UCSC Ensembl
Innerchr2:47138761..47140746hg19UCSC Ensembl
Outerchr2:47138570..47140958hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381986
hg191986
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590618
Supporting Variants
SamplesNA19648
Known GenesMCFD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10489595
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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