A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591183



Internal ID6631467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69479171..69480825hg38UCSC Ensembl
Innerchr2:69479171..69480825hg38UCSC Ensembl
Outerchr2:69478927..69481094hg38UCSC Ensembl
chr2:69706303..69707957hg19UCSC Ensembl
Innerchr2:69706303..69707957hg19UCSC Ensembl
Outerchr2:69706059..69708226hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381655
hg191655
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10534363, essv10534364
SamplesHG00328, HG00360
Known GenesAAK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591183
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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