A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750835



Internal ID12637701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248359378..248864040hg38UCSC Ensembl
Innerchr1:248522680..249158239hg19UCSC Ensembl
Innerchr1:246589303..247124862hg18UCSC Ensembl
Innerchr1:244848721..245367990hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38504663
hg19635560
hg18535560
hg17519270
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988613, essv6983006, essv6986320
SamplesBEC_533
Known GenesLYPD8, MIR3124, OR14I1, OR2G6, OR2T1, OR2T10, OR2T11, OR2T2, OR2T27, OR2T29, OR2T3, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, SH3BP5L, ZNF672, ZNF692
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)esv2750835
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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