A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592923



Internal ID6633206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:151625154..151640352hg38UCSC Ensembl
Innerchr2:151625154..151640352hg38UCSC Ensembl
Outerchr2:151624654..151640852hg38UCSC Ensembl
chr2:152481668..152496866hg19UCSC Ensembl
Innerchr2:152481668..152496866hg19UCSC Ensembl
Outerchr2:152481168..152497366hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3815199
hg1915199
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10711171, essv10711172
SamplesHG03160, HG03446
Known GenesNEB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592923
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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