A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752320



Internal ID12639186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:3033890..3235433hg38UCSC Ensembl
InnerchrX:2951931..3153474hg19UCSC Ensembl
InnerchrX:2961931..3163474hg18UCSC Ensembl
InnerchrX:2945292..3146835hg17UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38201544
hg19201544
hg18201544
hg17201544
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980775, essv6985405, essv6980776
SamplesBEC_148
Known GenesARSF
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)esv2752320
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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