A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751930



Internal ID12638796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:38545256..38584137hg38UCSC Ensembl
Innerchr21:39917180..39956061hg19UCSC Ensembl
Innerchr21:38839050..38877931hg18UCSC Ensembl
Innerchr21:38839050..38877931hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3838882
hg1938882
hg1838882
hg1738882
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980679, essv6980678, essv6987832
SamplesBEC_104
Known GenesERG
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751930
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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