A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752314



Internal ID12985866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:125319728..125808304hg38UCSC Ensembl
InnerchrX:124453577..124942286hg19UCSC Ensembl
InnerchrX:124281258..124769967hg18UCSC Ensembl
InnerchrX:124179112..124667821hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38488577
hg19488710
hg18488710
hg17488710
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989942, essv6984320
SamplesBEC_688
Known GenesLOC100129520
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)esv2752314
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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