A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983716



Internal ID12975807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109150336..109212336hg38UCSC Ensembl
Innerchr1:109692958..109754958hg19UCSC Ensembl
Innerchr1:109494481..109556481hg18UCSC Ensembl
Innerchr1:109405000..109467000hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3862001
hg1962001
hg1862001
hg1762001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750798
Supporting Variants
SamplesBEC_617
Known GenesKIAA1324
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983716
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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