A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893070



Internal ID18837204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110128565..110200752hg38UCSC Ensembl
Outerchr2:110067532..110225473hg38UCSC Ensembl
Innerchr2:110886142..110958329hg19UCSC Ensembl
Outerchr2:110825109..110983050hg19UCSC Ensembl
Innerchr2:110243431..110315618hg18UCSC Ensembl
Outerchr2:110182398..110340339hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38157942
hg19157942
hg18157942
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789262, essv25792794, essv25780372, essv25792771, essv25790693, essv25788270, essv25781652, essv25789373, essv25793004, essv25792022, essv25792570, essv25789494, essv25790662, essv25788246, essv25791465, essv25791629, essv25790890, essv25792918, essv25799976, essv25790871, essv25788555, essv25778931, essv25793076, essv25796969, essv25785980, essv25792627, essv25789084, essv25792819, essv25784032
Samples
Known GenesLINC00116, MALL, MIR4267, MIR4436B1, MIR4436B2, NPHP1
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
Illumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893070
Frequency
Sample Size3017
Observed Gain22
Observed Loss7
Observed Complex0
Frequencyn/a


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