A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750834



Internal ID12984386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248091963..248654081hg38UCSC Ensembl
Innerchr1:248255265..248817382hg19UCSC Ensembl
Innerchr1:246321888..246884005hg18UCSC Ensembl
Innerchr1:244581306..245143423hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38562119
hg19562118
hg18562118
hg17562118
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv17e55
Supporting Variantsessv6984347, essv6989946
SamplesBEC_693
Known GenesOR14C36, OR2G6, OR2L13, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6
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)esv2750834
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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