A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983581



Internal ID12976523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:5149513..5661773hg38UCSC Ensembl
InnerchrX:5067554..5579814hg19UCSC Ensembl
InnerchrX:5077554..5589814hg18UCSC Ensembl
InnerchrX:4927290..5439550hg17UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg38512261
hg19512261
hg18512261
hg17512261
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752328
Supporting Variants
SamplesBEC_669
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983581
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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