A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421932



Internal ID7905694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:155673116..155676929hg38UCSC Ensembl
Innerchr4:156594268..156598081hg19UCSC Ensembl
Innerchr4:156813718..156817531hg18UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg383814
hg193814
hg183814
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5012118, essv5109538, essv5125114, essv5115550, essv5110080, essv5127376, essv5068925, essv5139089, essv5078977, essv5018045, essv5041828, essv5125192, essv5115019, essv5042901, essv5059281, essv5015809, essv5136729, essv5033700, essv5157507, essv5111075, essv5139828, essv5032623, essv5097071, essv5076334, essv5024714, essv5087767, essv5097387, essv5120582, essv5005774, essv5055578, essv5095309, essv5157700, essv5088177, essv5154779, essv5119528, essv5085962, essv5124057, essv5152945, essv5073794, essv5039452, essv5078208
SamplesNA19248, NA19436, NA19192, NA19404, NA18966, NA19310, NA18511, NA19455, NA19319, NA19150, NA19236, NA18505, NA19151, NA19147, NA19161, NA19428, NA19148, NA19239, NA19309, NA19397, NA19181, NA19700, NA21491, NA19702, NA19372, NA19027, NA18925, NA20290, NA18910, NA19235, NA19138, NA21402, NA19452, NA19041, NA19160, NA18499, NA18924, NA19350, NA19249, NA19468, NA21768
Known GenesGUCY1A3
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)esv2421932
Frequency
Sample Size1184
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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