A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590106



Internal ID6630393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26039180..26042568hg38UCSC Ensembl
Innerchr2:26039230..26042518hg38UCSC Ensembl
Outerchr2:26039130..26042618hg38UCSC Ensembl
chr2:26262049..26265437hg19UCSC Ensembl
Innerchr2:26262099..26265387hg19UCSC Ensembl
Outerchr2:26261999..26265487hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383389
hg193389
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10433241, essv10433244, essv10433242, essv10433245, essv10433243
SamplesHG03055, HG01777, HG02445, NA19160, HG03445
Known GenesRAB10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590106
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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