A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984320



Internal ID12976791
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 StatusS
Merged Variantsesv2752314
Supporting Variants
SamplesBEC_688
Known GenesLOC100129520
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984320
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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