A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10420027



Internal ID4529789
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589931
Supporting Variants
SamplesHG04025
Known GenesFAM49A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10420027
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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