A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751897



Internal ID12985449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53131067..53248200hg38UCSC Ensembl
Innerchr2:53358205..53475338hg19UCSC Ensembl
Innerchr2:53211709..53328842hg18UCSC Ensembl
Innerchr2:53269856..53386989hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38117134
hg19117134
hg18117134
hg17117134
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983095, essv6989732, essv6983094
SamplesBEC_542
Known Genes
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)esv2751897
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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