A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590419



Internal ID6630705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38660017..38726534hg38UCSC Ensembl
Innerchr2:38660517..38726034hg38UCSC Ensembl
Outerchr2:38659017..38727534hg38UCSC Ensembl
chr2:38887159..38953676hg19UCSC Ensembl
Innerchr2:38887659..38953176hg19UCSC Ensembl
Outerchr2:38886159..38954676hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3866518
hg1966518
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10468251, essv10468253, essv10468252
SamplesHG02386, HG01815, HG02353
Known GenesGALM
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590419
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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