A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10420025



Internal ID421841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:16571360..16573119hg38UCSC Ensembl
Innerchr2:16571414..16573066hg38UCSC Ensembl
Outerchr2:16571307..16573173hg38UCSC Ensembl
chr2:16752628..16754387hg19UCSC Ensembl
Innerchr2:16752682..16754334hg19UCSC Ensembl
Outerchr2:16752575..16754441hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg381760
hg191760
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589930
Supporting Variants
SamplesNA21135
Known GenesFAM49A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10420025
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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