A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590284



Internal ID6630571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33372628..33375603hg38UCSC Ensembl
Innerchr2:33372630..33375602hg38UCSC Ensembl
Outerchr2:33372627..33375605hg38UCSC Ensembl
chr2:33597695..33600670hg19UCSC Ensembl
Innerchr2:33597697..33600669hg19UCSC Ensembl
Outerchr2:33597694..33600672hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382976
hg192976
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10451135, essv10451139, essv10451134, essv10451138, essv10451137, essv10451136
SamplesHG02970, HG03521, HG03575, HG02012, HG01879, NA19909
Known GenesLTBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590284
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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