A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589931



Internal ID6977261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:16573980..16580290hg38UCSC Ensembl
Innerchr2:16573997..16580273hg38UCSC Ensembl
Outerchr2:16573963..16580307hg38UCSC Ensembl
chr2:16755248..16761558hg19UCSC Ensembl
Innerchr2:16755265..16761541hg19UCSC Ensembl
Outerchr2:16755231..16761575hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg386311
hg196311
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10420026, essv10420027, essv10420028
SamplesHG03902, HG04025, HG04090
Known GenesFAM49A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589931
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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