A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421830



Internal ID8252278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31817451..31829645hg38UCSC Ensembl
Innerchr6:31785228..31797422hg19UCSC Ensembl
Innerchr6:31893207..31905401hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3812195
hg1912195
hg1812195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5074207, essv5005877, essv5067697, essv5010316, essv5052574, essv5082197, essv5026636, essv5127749, essv5062881, essv5157779, essv5033503, essv5151732, essv5086984, essv5093803, essv5023531
SamplesNA19204, NA19381, NA19382, NA20756, NA21512, NA19677, NA21825, NA19901, NA20542, NA12775, NA19380, NA20544, NA18943, NA19060, NA19676
Known GenesHSPA1A, HSPA1B
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)esv2421830
Frequency
Sample Size1184
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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