A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590109



Internal ID6630396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26089688..26093525hg38UCSC Ensembl
Innerchr2:26089688..26093525hg38UCSC Ensembl
Outerchr2:26089595..26093686hg38UCSC Ensembl
chr2:26312557..26316394hg19UCSC Ensembl
Innerchr2:26312557..26316394hg19UCSC Ensembl
Outerchr2:26312464..26316555hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383838
hg193838
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10433257, essv10433250, essv10433252, essv10433251, essv10433254, essv10433249, essv10433248, essv10433253, essv10433255, essv10433256
SamplesHG03940, HG03856, HG02658, HG03780, HG03773, HG03782, HG03718, HG04189, HG02784, NA20899
Known GenesRAB10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590109
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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