A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750897



Internal ID12637763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:45054697..45324688hg38UCSC Ensembl
Innerchr10:45550145..45820136hg19UCSC Ensembl
Innerchr10:44870151..45140142hg18UCSC Ensembl
Innerchr10:44870151..45140142hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38269992
hg19269992
hg18269992
hg17269992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989984, essv6984567, essv6984566, essv6989985
SamplesBEC_720
Known GenesANKRD30BP3, MIR3156-1, OR13A1, RSU1P2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750897
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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